-
Isolation of a candidate gene for choroideremia.
Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2135-9
PMID: 1549574
-
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
Am J Hum Genet. 1992 Apr;50(4):690-9
PMID: 1347967
-
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.
Am J Hum Genet. 1992 Apr;50(4):725-41
PMID: 1347968
-
Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.
Hum Genet. 1992 Mar;88(6):668-72
PMID: 1348049
-
An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations.
J Med Genet. 1992 Mar;29(3):175-9
PMID: 1313112
-
[Partial deletion of the long arm of chromosome 17. Presentation of a clinical case].
Minerva Pediatr. 1992 Jan-Feb;44(1-2):51-4
PMID: 1552879
-
Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma.
Am J Med Genet. 1992 Apr 1;42(6):771-6
PMID: 1554012
-
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia.
Ann Genet. 1991;34(3-4):233-8
PMID: 1809232
-
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
Am J Hum Genet. 1992 May;50(5):924-33
PMID: 1349199
-
Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis.
Am J Hum Genet. 1992 May;50(5):988-97
PMID: 1315124
-
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
Lancet. 1992 May 9;339(8802):1138-9
PMID: 1349369
-
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
J Med Genet. 1992 Apr;29(4):251-2
PMID: 1583645
-
Chromosome bands, their chromatin flavors, and their functional features.
Am J Hum Genet. 1992 Jul;51(1):17-37
PMID: 1609794
-
Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).
Am J Med Genet. 1992 Feb 15;42(4):638-41
PMID: 1609847
-
A new case of monosomy for 17q25----qter due to a maternal translocation [t(3;17)(p12;q24)].
Ann Genet. 1992;35(1):48-50
PMID: 1610120
-
Incontinentia pigmenti (type 1) and X;5 translocation.
Ann Genet. 1992;35(1):51-4
PMID: 1610121
-
Causal heterogeneity in isolated lissencephaly.
Neurology. 1992 Jul;42(7):1375-88
PMID: 1620349
-
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?
Am J Med Genet. 1992 Jul 15;43(5):839-43
PMID: 1642272
-
Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.
Am J Hum Genet. 1992 Sep;51(3):516-25
PMID: 1386710
-
Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.
Am J Hum Genet. 1981 Jul;33(4):513-8
PMID: 7258185
-
Parental origin of de novo chromosome rearrangements.
Hum Genet. 1980;53(3):343-7
PMID: 6445322
-
Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.
J Pediatr. 1980 Jun;96(6):1027-30
PMID: 6246230
-
Aniridia-Wilms tumor association.
J Pediatr. 1981 Apr;98(4):676-8
PMID: 6259310
-
Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus.
Mol Cell Biol. 1989 Jan;9(1):1-5
PMID: 2927388
-
Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.
Am J Med Genet. 1988 Dec;31(4):799-804
PMID: 3239571
-
Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.
Am J Med Genet. 1989 Jan;32(1):133-5
PMID: 2784939
-
Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis.
Genomics. 1988 Nov;3(4):315-22
PMID: 3243546
-
The gene for incontinentia pigmenti is assigned to Xq28.
Genomics. 1989 Apr;4(3):427-9
PMID: 2714798
-
Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.
Hum Genet. 1989 May;82(2):199-201
PMID: 2722199
-
Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13).
Am J Med Genet. 1989 Mar;32(3):411-6
PMID: 2729360
-
Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq.
Ann Hum Genet. 1989 Jan;53(Pt 1):9-14
PMID: 2729897
-
X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.
Clin Genet. 1989 Jun;35(6):462-6
PMID: 2736795
-
Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
Science. 1989 Jun 30;244(4912):1575-8
PMID: 2544995
-
T cell immunodeficiency in a patient with 10p deletion syndrome.
J Pediatr. 1989 Aug;115(2):330
PMID: 2754563
-
De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
J Med Genet. 1989 Aug;26(8):528-32
PMID: 2671374
-
Angelman's syndrome and 15q11-13 deletions.
J Med Genet. 1989 Aug;26(8):538
PMID: 2769727
-
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.
Am J Med Genet. 1989 Apr;32(4):490-4
PMID: 2773990
-
Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.
Am J Med Genet. 1989 Apr;32(4):520-3
PMID: 2773996
-
Genetic and cytogenetic analysis of patients showing reduced esterase-D levels and mental retardation from a survey of 500 individuals with retinoblastoma.
Ophthalmic Paediatr Genet. 1989 Jun;10(2):117-27
PMID: 2779982
-
Constitutional karyotype in retinoblastoma. Case report and review of literature.
Ophthalmic Paediatr Genet. 1989 Jun;10(2):129-50
PMID: 2674826
-
Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease.
Am J Med Genet. 1989 Jul;33(3):426-30
PMID: 2801783
-
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.
Nature. 1989 Nov 16;342(6247):281-5
PMID: 2812027
-
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.
Am J Med Genet. 1989 Oct;34(2):230-2
PMID: 2817003
-
Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly.
Am J Med Genet. 1989 Oct;34(2):237-45
PMID: 2683787
-
Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities.
Am J Med Genet. 1989 Oct;34(2):271-88
PMID: 2683788
-
Association of 13q deletion and Hirschsprung's disease.
J Med Genet. 1989 Dec;26(12):793-4
PMID: 2614805
-
Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.
Am J Med Genet. 1990 Jan;35(1):142-7
PMID: 2301467
-
A de novo X;3 translocation in Rett syndrome.
Am J Med Genet. 1990 Jan;35(1):148-51
PMID: 2301468
-
Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism.
Am J Med Genet. 1990 Jan;35(1):18-21
PMID: 2405667
-
The excision of intervening sequences from Salmonella 23S ribosomal RNA.
Cell. 1990 Feb 9;60(3):405-14
PMID: 2406020
-
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus.
Cell. 1990 Feb 9;60(3):509-20
PMID: 2154335
-
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping.
Nature. 1990 Feb 22;343(6260):774-8
PMID: 2154702
-
Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.
Hum Genet. 1990 Mar;84(4):347-52
PMID: 2307456
-
A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male.
Am J Med Genet. 1990 Feb;35(2):241-4
PMID: 2106786
-
Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis.
Am J Med Genet. 1990 Feb;35(2):286-8
PMID: 2309771
-
Cytogenetic and molecular study of Angelman syndrome.
Am J Med Genet. 1990 Mar;35(3):314-8
PMID: 2309778
-
Prader-Willi syndrome: current understanding of cause and diagnosis.
Am J Med Genet. 1990 Mar;35(3):319-32
PMID: 2309779
-
Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
Am J Med Genet. 1990 Mar;35(3):350-3
PMID: 2309781
-
Choroideremia associated with an X-autosomal translocation.
Hum Genet. 1990 Apr;84(5):459-64
PMID: 2323779
-
Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.
Hum Genet. 1990 May;84(6):577-9
PMID: 2338345
-
Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8.
Nature. 1990 Jun 21;345(6277):736-9
PMID: 2141669
-
An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor.
Cell. 1990 Jun 29;61(7):1257-69
PMID: 2163761
-
Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma.
Ann Genet. 1985;28(4):219-23
PMID: 3879432
-
Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.
Clin Genet. 1986 Feb;29(2):108-15
PMID: 3955860
-
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].
Hum Genet. 1986 Apr;72(4):297-302
PMID: 3754537
-
Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.
Ann Genet. 1989;32(3):149-51
PMID: 2817774
-
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
Am J Med Genet. 1989 Aug;33(4):505-7
PMID: 2596512
-
Opinion: predictive testing for Huntington disease in childhood: challenges and implications.
Am J Hum Genet. 1990 Jan;46(1):1-4
PMID: 2136787
-
Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7.
Hum Genet. 1989 Dec;84(1):79-80
PMID: 2606480
-
Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination.
Hum Genet. 1990 Jan;84(2):198-202
PMID: 2298458
-
Contiguous gene syndromes: a component of recognizable syndromes.
J Pediatr. 1986 Aug;109(2):231-41
PMID: 3016222
-
Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23.
Clin Genet. 1986 May;29(5):434-8
PMID: 3742850
-
Constitutional interstitial deletion of 11p11 and pericentric inversion of chromosome 9 in a patient with Wiedemann-Beckwith syndrome and hepatoblastoma.
Cancer Genet Cytogenet. 1986 Oct;23(2):95-104
PMID: 3019515
-
Small deletions of the short arm of the Y chromosome in 46,XY females.
Proc Natl Acad Sci U S A. 1986 Oct;83(20):7841-4
PMID: 3464001
-
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.
Hum Genet. 1986 Oct;74(2):188-9
PMID: 3490425
-
DiGeorge syndrome and 22q11 rearrangements.
Hum Genet. 1986 Oct;74(2):206
PMID: 3770751
-
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.
Nature. 1986 Oct 16-22;323(6089):646-50
PMID: 3773991
-
Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome.
Clin Genet. 1986 Sep;30(3):154-6
PMID: 3780031
-
Gardner syndrome in a man with an interstitial deletion of 5q.
Am J Med Genet. 1986 Nov;25(3):473-6
PMID: 3789010
-
Association of red cell spherocytosis with deletion of the short arm of chromosome 8.
Blood. 1987 Jan;69(1):156-9
PMID: 3790722
-
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.
Hum Genet. 1986 Dec;74(4):449-52
PMID: 2878872
-
Tentative assignment of hypomelanosis of Ito to 9q33----qter.
Hum Genet. 1987 Jan;75(1):98-9
PMID: 3804339
-
Muscular dystrophy in girls with X;autosome translocations.
J Med Genet. 1986 Dec;23(6):484-90
PMID: 3806636
-
Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.
J Med Genet. 1986 Dec;23(6):491-3
PMID: 2879921
-
Molecular deletion analysis in Duchenne muscular dystrophy.
J Med Genet. 1986 Dec;23(6):509-15
PMID: 2879923
-
Lip pits and deletion 1q32----41.
Am J Med Genet. 1987 Feb;26(2):437-43
PMID: 3812594
-
Menkes syndrome in a girl with X-autosome translocation.
Am J Med Genet. 1987 Feb;26(2):503-10
PMID: 3812600
-
A final word on the tricho-rhino-phalangeal syndromes.
Clin Genet. 1987 Apr;31(4):273-5
PMID: 3594935
-
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.
Proc Natl Acad Sci U S A. 1987 Aug;84(15):5355-9
PMID: 3037545
-
Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.
Clin Genet. 1987 Jul;32(1):66-9
PMID: 3621656
-
Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.
Science. 1987 Sep 25;237(4822):1620-4
PMID: 3629260
-
Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21.
Hum Genet. 1988 Jan;78(1):94-5
PMID: 3338796
-
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.
Cell. 1990 Jul 13;62(1):187-92
PMID: 1694727
-
Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.
Genomics. 1990 Jul;7(3):299-306
PMID: 2365351
-
More precise localization of the gene for Hunter syndrome.
Genomics. 1990 Jul;7(3):358-62
PMID: 2114352
-
The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.
Hum Genet. 1990 Jul;85(2):175-83
PMID: 2370045
-
Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.
Eur J Pediatr. 1990 Jun;149(9):618-20
PMID: 2373110
-
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.
Nature. 1990 Jul 19;346(6281):240-4
PMID: 1695712
-
Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome.
Clin Genet. 1990 Aug;38(2):94-104
PMID: 1976460
-
Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis.
Cytogenet Cell Genet. 1990;53(4):206-10
PMID: 2119939
-
Cloning of a gene that is rearranged in patients with choroideraemia.
Nature. 1990 Oct 18;347(6294):674-7
PMID: 2215697
-
The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis.
Genet Res. 1990 Oct-Dec;56(2-3):135-40
PMID: 2272503
-
Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes.
Genomics. 1990 Nov;8(3):487-91
PMID: 1981052
-
Alagille syndrome and deletion of 20p.
J Med Genet. 1990 Dec;27(12):729-37
PMID: 2074558
-
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.
Hum Genet. 1991 Aug;87(4):452-6
PMID: 1879832
-
Forebrain cleavage gene causing holoprosencephaly: deletion mapping to chromosome band 2p21.
Am J Med Genet. 1991 Jul 1;40(1):130
PMID: 1887845
-
WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour.
Nature. 1991 Oct 3;353(6343):431-4
PMID: 1654525
-
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
Am J Hum Genet. 1991 Oct;49(4):707-14
PMID: 1897521
-
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.
Am J Hum Genet. 1991 Oct;49(4):804-10
PMID: 1897526
-
Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36.
Am J Med Genet. 1991 Aug 1;40(2):201-5
PMID: 1897576
-
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.
Cell. 1991 Oct 18;67(2):437-47
PMID: 1655284
-
A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.
Hum Genet. 1991 Oct;87(6):748-50
PMID: 1937482
-
Further evidence for the location of the BPES gene at 3q2.
J Med Genet. 1991 Oct;28(10):725
PMID: 1941972
-
Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
Am J Med Genet. 1991 Oct 1;41(1):54-63
PMID: 1683159
-
DNA deletion and its parental origin in Angelman syndrome patients.
Am J Med Genet. 1991 Oct 1;41(1):64-8
PMID: 1683160
-
Translocation (Y;19)(q12;q13) and azoospermia.
Ann Genet. 1991;34(1):27-9
PMID: 1952788
-
Deletion of 7q22 and ectrodactyly.
Genet Couns. 1991;2(1):27-31
PMID: 1741973
-
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
Am J Hum Genet. 1991 Dec;49(6):1219-34
PMID: 1684085
-
Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).
J Med Genet. 1991 Dec;28(12):881-3
PMID: 1757967
-
Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature.
Cancer Genet Cytogenet. 1992 Jan;58(1):66-70
PMID: 1728953
-
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.
Cell. 1991 Dec 20;67(6):1059-74
PMID: 1684738
-
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
Am J Hum Genet. 1992 Jan;50(1):182-9
PMID: 1346078
-
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis.
Genomics. 1991 Oct;11(2):443-51
PMID: 1769656
-
Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.
Am J Med Genet. 1992 Jan 15;42(2):161-9
PMID: 1733164
-
Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991.
Cytogenet Cell Genet. 1991;58(3-4):986-2156
PMID: 1685704
-
Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.
Hum Genet. 1992 Feb;88(4):376-8
PMID: 1740313
-
Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.
Am J Med Genet. 1992 Nov 1;44(4):434-6
PMID: 1442882
-
Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.
Am J Med Genet. 1992 Nov 1;44(4):513-7
PMID: 1442898
-
Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2.
Am J Med Genet. 1992 Sep 15;44(2):163-7
PMID: 1456285
-
Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).
Am J Med Genet. 1992 Sep 15;44(2):237-41
PMID: 1456298
-
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
Am J Med Genet. 1992 Sep 15;44(2):261-8
PMID: 1360769
-
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.
Clin Genet. 1991 Sep;40(3):202-6
PMID: 1773535
-
A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.
Genomics. 1991 Nov;11(3):737-43
PMID: 1663489
-
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.
Am J Hum Genet. 1992 Feb;50(2):278-87
PMID: 1734712
-
Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.
Am J Hum Genet. 1992 Feb;50(2):317-30
PMID: 1734714
-
Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.
Am J Med Genet. 1991 Dec 15;41(4):460-3
PMID: 1776638
-
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
Am J Hum Genet. 1993 Feb;52(2):249-54
PMID: 8430691
-
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
Am J Med Genet. 1993 Feb 1;45(3):308-12
PMID: 8434616
-
High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome.
Clin Genet. 1993 Feb;43(2):111-2
PMID: 8448900
-
Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.
Am J Med Genet. 1993 Mar 1;45(5):577-80
PMID: 8456827
-
Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome.
Hum Mol Genet. 1992 Apr;1(1):29-33
PMID: 1301132
-
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nat Genet. 1992 Apr;1(1):29-33
PMID: 1301995
-
Positional cloning: let's not call it reverse anymore.
Nat Genet. 1992 Apr;1(1):3-6
PMID: 1301996
-
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
Nat Genet. 1992 May;1(2):144-8
PMID: 1302008
-
The human PAX6 gene is mutated in two patients with aniridia.
Nat Genet. 1992 Aug;1(5):328-32
PMID: 1302030
-
Physical mapping of the holoprosencephaly critical region on chromosome 7q36.
Nat Genet. 1993 Mar;3(3):247-51
PMID: 8485580
-
A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.
J Med Genet. 1993 Apr;30(4):314-5
PMID: 8487278
-
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
Nat Genet. 1993 Jan;3(1):14-9
PMID: 8490646
-
Isolation of a partial candidate gene for Menkes disease by positional cloning.
Nat Genet. 1993 Jan;3(1):20-5
PMID: 8490647
-
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
Nat Genet. 1993 Jan;3(1):7-13
PMID: 8490659
-
Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.
Hum Mol Genet. 1992 Jul;1(4):221-7
PMID: 1303191
-
Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I.
Hum Mol Genet. 1992 Aug;1(5):315-7
PMID: 1303207
-
Isolation of the human Xp21 glycerol kinase gene by positional cloning.
Hum Mol Genet. 1993 Feb;2(2):107-14
PMID: 8499898
-
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.
Nat Genet. 1993 Jun;4(2):170-4
PMID: 8348155
-
Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.
Am J Med Genet. 1992 Jan 1;42(1):127-34
PMID: 1308352
-
Alagille syndrome with de novo del(20) (p11.2).
Am J Med Genet. 1992 Jan 1;42(1):35-8
PMID: 1308363
-
Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.
Am J Med Genet. 1981;9(2):105-11
PMID: 7258223
-
Infants weighing 1.8-2.5 kg: should they be cared for in neonatal units or postnatal wards?
Lancet. 1982 Feb 6;1(8267):322-5
PMID: 6120321
-
Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.
J Pediatr. 1982 Apr;100(4):574-7
PMID: 6278119
-
Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.
Hum Genet. 1982;60(4):373-5
PMID: 7106775
-
Wilms's tumour and aniridia: clinical and cytogenetic features.
Arch Dis Child. 1982 Sep;57(9):685-90
PMID: 6289758
-
No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome.
Am J Med Genet. 1982 Nov;13(3):345-7
PMID: 6983832
-
X-autosome translocations: cytogenetic characteristics and their consequences.
Hum Genet. 1982;61(4):295-309
PMID: 7152515
-
Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation.
Hum Genet. 1982;61(4):364-8
PMID: 6818132
-
Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.
Hum Genet. 1982;62(3):183-7
PMID: 6984841
-
Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus.
Hum Genet. 1982;62(3):280-1
PMID: 6132873
-
Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.
Hum Genet. 1983;63(2):158-61
PMID: 6301974
-
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.
Am J Med Genet. 1983 May;15(1):3-28
PMID: 6344634
-
Wilms' tumor and congenital aniridia.
JAMA. 1968 Oct 21;206(4):825-8
PMID: 4300348
-
Retinoblastoma and deletion D (14) syndrome.
J Med Genet. 1969 Sep;6(3):322-7
PMID: 5345106
-
Dq-, Dr and retinoblastoma.
Humangenetik. 1970;10(3):209-17
PMID: 5479429
-
Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.
Am J Hum Genet. 1974 Nov;26(6):715-22
PMID: 4140688
-
Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation.
Am J Hum Genet. 1975 Sep;27(5):586-94
PMID: 1163534
-
Congenital anomalies in children with Wilms' tumor: a new survey.
Cancer. 1976 Jan;37(1):403-8
PMID: 174803
-
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.
Arch Neurol. 1977 Jul;34(7):437-42
PMID: 880069
-
Piebald trait in a retarded child with interstitial deletion of chromosome 4.
Am J Hum Genet. 1977 Nov;29(6):641-2
PMID: 930930
-
X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
J Med Genet. 1979 Aug;16(4):254-62
PMID: 290816
-
Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
J Med Genet. 1979 Oct;16(5):389-92
PMID: 513085
-
Del11p13/nephroblastoma without aniridia.
Hum Genet. 1984;67(4):455-6
PMID: 6092262
-
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.
Clin Genet. 1984 Oct;26(4):356-62
PMID: 6094051
-
Partial deletion of distal 17q.
Am J Med Genet. 1985 Jun;21(2):225-9
PMID: 4014309
-
Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1).
Clin Genet. 1985 Jun;27(6):600-5
PMID: 4017280
-
High-resolution studies in patients with aniridia-Wilms tumor association.
Hum Genet. 1985;70(3):289
PMID: 2991118
-
Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.
Ann Genet. 1985;28(2):86-9
PMID: 3876068
-
Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?
Ann Genet. 1985;28(2):90-2
PMID: 3876069
-
A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.
Hum Genet. 1985;71(2):160-2
PMID: 4043965
-
Two cases of X/autosome translocation in females with incontinentia pigmenti.
Hum Genet. 1985;71(3):231-4
PMID: 4065895
-
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.
Nature. 1985 Dec 19-1986 Jan 1;318(6047):672-5
PMID: 3001530
-
Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.
Br J Ophthalmol. 1986 Jan;70(1):64-71
PMID: 3947601
-
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.
Am J Med Genet. 1986 Mar;23(3):837-47
PMID: 3953680
-
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.
Am J Hum Genet. 1988 Nov;43(5):605-11
PMID: 3189331
-
Genetic counselling in hypomelanosis of Ito: case report and review.
Clin Genet. 1988 Aug;34(2):109-15
PMID: 3056640
-
Precise localization of NF1 to 17q11.2 by balanced translocation.
Am J Hum Genet. 1989 Jan;44(1):20-4
PMID: 2491776
-
Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene.
Genomics. 1989 Jan;4(1):101-4
PMID: 2914705
-
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
Genomics. 1989 Jan;4(1):41-6
PMID: 2914708
-
Frequency of 13q abnormalities among 203 patients with retinoblastoma.
J Natl Cancer Inst. 1989 Mar 1;81(5):370-4
PMID: 2915374
-
The association of Angelman's syndrome with deletions within 15q11-13.
J Med Genet. 1989 Feb;26(2):73-7
PMID: 2918545
-
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Am J Med Genet. 1988 Nov;31(3):603-16
PMID: 2852474
-
CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA.
Ann Hum Genet. 1963 Nov;27:171-4
PMID: 14081487
-
ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.
N Engl J Med. 1964 Apr 30;270:922-7
PMID: 14114111
-
Cushing's syndrome in patients with the Zollinger-Ellison syndrome.
N Engl J Med. 1986 Jul 3;315(1):1-5
PMID: 2872593
-
A family with Huntington disease and reciprocal translocation 4;5.
Am J Hum Genet. 1986 May;38(5):759-67
PMID: 2940859
-
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.
Nature. 1986 Jul 3-9;322(6074):32-8
PMID: 2425263
-
Interstitial deletion of (17)(p11.2p11.2) in nine patients.
Am J Med Genet. 1986 Jul;24(3):393-414
PMID: 2425619
-
Tentative assignment of piebald trait gene to chromosome band 4q12.
Hum Genet. 1986 Jul;73(3):230-1
PMID: 3733079
-
Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.
Am J Hum Genet. 1992 Dec;51(6):1277-85
PMID: 1463011
-
Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.
Am J Hum Genet. 1992 Dec;51(6):1286-94
PMID: 1334370
-
Constitutional ring chromosomes and tumour suppressor genes.
J Med Genet. 1992 Dec;29(12):879-82
PMID: 1336057
-
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
J Med Genet. 1992 Dec;29(12):921-4
PMID: 1362225
-
The morbid anatomy of the human genome: chromosomal location of mutations causing disease.
J Med Genet. 1993 Jan;30(1):1-26
PMID: 8423603
-
Further evidence for location of the spherocytosis gene on chromosome 8.
Ann Intern Med. 1983 Aug;99(2):192-3
PMID: 6881776
-
Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.
Hum Genet. 1983;64(2):196-9
PMID: 6885061
-
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome.
Am J Med Genet. 1983 Nov;16(3):313-21
PMID: 6316787
-
Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping.
Ann Genet. 1983;26(3):133-7
PMID: 6606374
-
Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.
Arch Dis Child. 1983 Nov;58(11):911-5
PMID: 6418082
-
Prader-Willi syndrome associated with inversion of chromosome 15.
Clin Genet. 1983 Dec;24(6):456-61
PMID: 6652960
-
Chromosome 11 and Beckwith-Wiedemann syndrome.
J Pediatr. 1984 Mar;104(3):484-5
PMID: 6707807
-
Aarskog syndrome: full male and female expression associated with an X-autosome translocation.
Am J Med Genet. 1984 Mar;17(3):595-602
PMID: 6711610
-
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Hum Genet. 1984;67(2):193-200
PMID: 6745939
-
High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities.
Hum Genet. 1984;67(3):245-8
PMID: 6088386
-
High resolution G-banding analysis in aniridia.
Ophthalmic Paediatr Genet. 1987 Nov;8(3):145-50
PMID: 2830569
-
Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands.
Cell. 1988 May 6;53(3):391-400
PMID: 3365767
-
Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.
Hum Genet. 1988 May;79(1):2-7
PMID: 3163319
-
Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
J Med Genet. 1988 Jun;25(6):383-6
PMID: 3398005
-
Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient.
Hum Genet. 1988 Jul;79(3):280-2
PMID: 2841227
-
Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.
Science. 1988 Aug 12;241(4867):840-2
PMID: 2841760
-
The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization.
Clin Genet. 1988 Jul;34(1):1-6
PMID: 2900707
-
Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype.
Hum Genet. 1988 Sep;80(1):85-9
PMID: 3417309
-
Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.
Hum Genet. 1988 Oct;80(2):201-2
PMID: 3169748
-
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.
Am J Hum Genet. 1988 Oct;43(4):452-61
PMID: 3177387
-
Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.
Cytogenet Cell Genet. 1988;48(1):28-34
PMID: 3180845
-
Molecular cytogenetics: toward dissection of the contiguous gene syndromes.
Am J Hum Genet. 1988 Nov;43(5):575-8
PMID: 3189328
-
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.
Am J Hum Genet. 1991 Jun;48(6):1133-8
PMID: 2035533
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.
Genomics. 1991 May;10(1):201-6
PMID: 2045103
-
Uniparental paternal disomy in a genetic cancer-predisposing syndrome.
Nature. 1991 Jun 20;351(6328):665-7
PMID: 1675767
-
Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).
Am J Med Genet. 1991 Mar 15;38(4):636-9
PMID: 2063911
-
On the parental origin of de novo mutation in man.
J Med Genet. 1991 Apr;28(4):217-23
PMID: 1677423
-
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis.
Clin Genet. 1991 Jun;39(6):401-8
PMID: 1677832
-
X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.
Hum Genet. 1991 Jul;87(3):338-40
PMID: 1864610
-
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.
Nature. 1991 Aug 8;352(6335):539-40
PMID: 1650914
-
Deletion of chromosome 13 in Moebius syndrome.
J Med Genet. 1991 Jun;28(6):413-4
PMID: 1870098
-
Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.
Am J Med Genet. 1991 Jun 15;39(4):413-4
PMID: 1877619
-
Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.
Hum Genet. 1989 Feb;81(3):269-72
PMID: 2921037
-
Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13.
Genomics. 1992 Aug;13(4):925-30
PMID: 1505982
-
Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.
Am J Med Genet. 1992 Sep 1;44(1):126-8
PMID: 1519642
-
Continuum of overlapping clones spanning the entire human chromosome 21q.
Nature. 1992 Oct 1;359(6394):380-7
PMID: 1406950
-
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.
Am J Hum Genet. 1992 Oct;51(4):701-8
PMID: 1357962
-
A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
Am J Hum Genet. 1992 Nov;51(5):957-63
PMID: 1415264
-
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3.
Clin Genet. 1992 Aug;42(2):101
PMID: 1424230
-
Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.
Genomics. 1992 Oct;14(2):523-5
PMID: 1427872
-
Isolation of DNA markers from a region between incontinentia pigmenti 1 (IP1) X-chromosomal translocation breakpoints by a comparative PCR analysis of a radiation hybrid subclone mapping panel.
Genomics. 1992 Nov;14(3):649-56
PMID: 1427891
-
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.
J Med Genet. 1992 Oct;29(10):686-90
PMID: 1359144
-
A second-generation linkage map of the human genome.
Nature. 1992 Oct 29;359(6398):794-801
PMID: 1436057
-
The human Y chromosome: overlapping DNA clones spanning the euchromatic region.
Science. 1992 Oct 2;258(5079):60-6
PMID: 1359640