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Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.
Eur J Pediatr. 1983 Oct;141(1):8-13
PMID: 6580169
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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
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Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot.
Am J Med Genet. 1984 Jan;17(1):375-82
PMID: 6711605
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A new X-linked multiple congenital anomalies/mental retardation syndrome.
Am J Med Genet. 1984 Jan;17(1):367-74
PMID: 6711604
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The marker (X) syndrome: a cytogenetic and genetic analysis.
Ann Hum Genet. 1984 Jan;48(Pt 1):21-37
PMID: 6712153
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X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report.
Clin Genet. 1983 Jan;23(1):70-4
PMID: 6682021
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X linked recessive inheritance of agenesis of the corpus callosum.
J Med Genet. 1983 Apr;20(2):122-4
PMID: 6682447
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X-linked dominant inherited diseases with lethality in hemizygous males.
Hum Genet. 1983;64(1):1-23
PMID: 6873941
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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
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Mild mental retardation in children in a northern Swedish county.
J Ment Defic Res. 1981 Sep;25(Pt 3):169-86
PMID: 6974247
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Severe mental handicap in Northern Ireland.
J Ment Defic Res. 1981 Sep;25(Pt 3):147-55
PMID: 6974246
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Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family.
J Ment Defic Res. 1982 Sep;26(Pt 3):153-62
PMID: 7175926
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The Coffin-Lowry syndrome. Experience from four centres.
Clin Genet. 1982 May;21(5):321-35
PMID: 7116677
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An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness.
J Ment Defic Res. 1982 Mar;26(Pt 1):27-40
PMID: 7077653
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X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome.
J Pediatr. 1979 Jan;94(1):56-60
PMID: 758423
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Severe mental retardation in children in a northern Swedish county.
J Ment Defic Res. 1977 Sep;21(3):161-80
PMID: 926165
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Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.
Science. 1977 Jul 15;197(4300):265-6
PMID: 877551
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Recurrence risks in families of children with symmetrical spasticity.
Dev Med Child Neurol. 1977 Apr;19(2):179-91
PMID: 870357
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Colchester revisited: a genetic study of mental defect.
J Med Genet. 1977 Feb;14(1):1-9
PMID: 839491
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X-linked skeletal dysplasia with mental retardation.
Clin Genet. 1977 Feb;11(2):128-36
PMID: 837562
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Lowe's syndrome: identification of carriers by lens examination.
J Med Genet. 1976 Dec;13(6):449-54
PMID: 1018304
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Norrie's disease.
Birth Defects Orig Artic Ser. 1971 Mar;7(3):117-24
PMID: 5006136
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The W syndrome. Studies of malformation syndromes of man XXVIII.
Birth Defects Orig Artic Ser. 1974;10(7):51-60
PMID: 4425540
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The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School.
Birth Defects Orig Artic Ser. 1971 Feb;7(1):117-34
PMID: 5006209
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A new craniodigital syndrome with mental retardation.
J Pediatr. 1971 Apr;78(4):658-63
PMID: 4323269
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X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"?
Humangenetik. 1973;20(2):113-7
PMID: 4274173
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An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study.
J Ment Defic Res. 1974 Dec;18(4):317-25
PMID: 4465467
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An aetiological study of 1,000 patients with an I.Q. assessment below 51.
Med J Aust. 1975 Dec 20-27;2(25-26):927-31
PMID: 130531
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The MASA syndrome: a new heritable mental retardation syndrome.
Clin Genet. 1974;5(4):298-306
PMID: 4855169
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A new X-linked recessive disorder with dwarfism, cerebral atrophy, and generalized keratosis follicularis.
J Pediatr. 1974 Apr;84(4):564-7
PMID: 4834251
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Theory of X-linkage of major intellectual traits.
Am J Ment Defic. 1972 May;76(6):611-9
PMID: 5031080
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Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.
Pediatrics. 1972 Aug;50(2):188-201
PMID: 5045349
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Counselling in diseases produced either by autosomal or X-linked recessive mutations.
Acta Genet Stat Med. 1968;18(6):521-33
PMID: 4976957
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Oculo-cerebro-renal syndrome. A review.
Am J Dis Child. 1968 Feb;115(2):145-68
PMID: 4865974
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Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.
Am J Hum Genet. 1988 May;42(5):748-55
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The Lenz microphthalmia syndrome.
Am J Ophthalmol. 1988 Jan 15;105(1):40-5
PMID: 3276203
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Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.
Am J Med Genet. 1988 Dec;31(4):741-51
PMID: 3239563
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Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.
Hum Genet. 1988 Nov;80(3):282-6
PMID: 3192215
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Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.
Am J Med Genet. 1988 May-Jun;30(1-2):523-30
PMID: 3177469
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X-linked mental retardation: Renpenning revisited.
Am J Med Genet. 1980;7(4):491-5
PMID: 7211958
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Nonspecific X-linked mental retardation II: the frequency in British Columbia.
Am J Med Genet. 1980;7(4):461-9
PMID: 7211956
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Aarskog's syndrome.
Arch Dis Child. 1980 Sep;55(9):706-10
PMID: 7436535
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The Borjeson-Forssman-Lehmann syndrome. A family study.
Clin Genet. 1986 Apr;29(4):317-20
PMID: 3720009
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The orofaciodigital (OFD) syndromes.
J Med Genet. 1986 Apr;23(2):116-9
PMID: 3712388
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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
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Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females.
Am J Med Genet. 1986 Jan-Feb;23(1-2):139-56
PMID: 3953643
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On the gates of hell and a most unusual gene.
Am J Med Genet. 1986 Jan-Feb;23(1-2):1-10
PMID: 3953638
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X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.
J Med Genet. 1986 Feb;23(1):23-31
PMID: 3950933
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Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism.
Dev Med Child Neurol. 1985 Jun;27(3):335-43
PMID: 3926570
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Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.
Clin Genet. 1985 Mar;27(3):282-3
PMID: 3857130
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Further segregation analysis of the fragile X syndrome with special reference to transmitting males.
Hum Genet. 1985;69(4):289-99
PMID: 3838733
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Smith-Fineman-Myers syndrome: report of a third case.
Am J Med Genet. 1985 Oct;22(2):301-4
PMID: 4050861
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A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.
J Med Genet. 1985 Aug;22(4):258-66
PMID: 4045951
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X-linked syndrome of branchial arch and other defects.
Am J Med Genet. 1985 May;21(1):137-42
PMID: 4039890
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A new X-linked mental retardation syndrome.
Am J Med Genet. 1985 Aug;21(4):697-705
PMID: 4025397
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An X-linked recessive basal ganglia disorder with mental retardation.
Am J Med Genet. 1985 Aug;21(4):681-9
PMID: 4025396
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Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.
Am J Hum Genet. 1990 Jun;46(6):1127-40
PMID: 2339705
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Hydrocephalus and congenital clasped thumbs: a case report with electromyographic evaluation.
Dev Med Child Neurol. 1976 Aug;18(4):521-4
PMID: 955314
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Incontinentia pigmenti. A world statistical analysis.
Arch Dermatol. 1976 Apr;112(4):535-42
PMID: 1267462
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The oculo-cerebral-renal syndrome of Lowe.
Arch Neurol. 1975 Feb;32(2):103-7
PMID: 1122172
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Recurrence risk of mental retardation in sibs.
Med J Aust. 1971 May 29;1(22):1165-7
PMID: 5557088
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A marker X chromosome.
Am J Hum Genet. 1969 May;21(3):231-44
PMID: 5794013
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Sex-linked spastic paraplegia.
Am J Ment Defic. 1966 Jul;71(1):13-8
PMID: 5964018
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Families with two or more mentally retarded or mentally disturbed siblings: the preponderance of males.
Am J Ment Defic. 1966 Mar;70(5):745-52
PMID: 5908528
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The Aicardi syndrome: report of 4 cases and review of the literature.
Ann Neurol. 1979 May;5(5):475-82
PMID: 111607
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The Aarskog (facio-digito-genital) syndrome.
Clin Genet. 1979 Oct;16(4):269-76
PMID: 519896
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Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria.
N Engl J Med. 1960 Mar 31;262:658-65
PMID: 14429829
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THE OCULO-CEREBRO-RENAL SYNDROME OF LOWE.
Am J Dis Child. 1965 Mar;109:185-203
PMID: 14246065
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HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.
Arch Neurol. 1964 Aug;11:198-208
PMID: 14158525
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The syndrome of sex-linked hydrocephalus.
Arch Dis Child. 1961 Oct;36:486-93
PMID: 13889295
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An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.
Acta Med Scand. 1962 Jan;171:13-21
PMID: 13871358
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Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.
Am J Hum Genet. 1991 Mar;48(3):460-7
PMID: 1671806
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Linkage analysis in a large family with nonspecific X-linked mental retardation.
Am J Med Genet. 1991 Feb-Mar;38(2-3):240-3
PMID: 1673298
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Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.
Am J Med Genet. 1991 Feb-Mar;38(2-3):215-23
PMID: 2018061
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New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures.
Am J Med Genet. 1991 Feb-Mar;38(2-3):200-7
PMID: 2018058
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Computerized approach to X-linked mental retardation syndromes.
Am J Med Genet. 1991 Feb-Mar;38(2-3):190-9
PMID: 2018057
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Norrie disease resulting from a gene deletion: clinical features and DNA studies.
J Med Genet. 1988 Feb;25(2):73-8
PMID: 3162283
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Infantile X-linked ataxia and deafness: a new clinicopathologic entity?
Neurology. 1987 Aug;37(8):1344-9
PMID: 3614654
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X-linked olivopontocerebellar atrophy.
Clin Genet. 1989 Jun;35(6):417-22
PMID: 2661059
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X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.
Clin Genet. 1989 Feb;35(2):116-20
PMID: 2470540
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Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.
J Neurol Neurosurg Psychiatry. 1986 Dec;49(12):1423-6
PMID: 3806120
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X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.
Am J Med Genet. 1985 Feb;20(2):307-15
PMID: 3856385
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A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.
Am J Med Genet. 1985 Apr;20(4):597-606
PMID: 4039531
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Rett syndrome. A commonly overlooked progressive encephalopathy in girls.
Am J Dis Child. 1986 Aug;140(8):761-5
PMID: 3728402
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Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
Genomics. 1989 Jan;4(1):41-6
PMID: 2914708
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X-linked dysmorphic syndrome with mental retardation.
Clin Genet. 1987 Nov;32(5):326-34
PMID: 3121220
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FG syndrome update 1988: note of 5 new patients and bibliography.
Am J Med Genet. 1988 May-Jun;30(1-2):309-28
PMID: 3052062
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Monoamine oxidase deficiency in males with an X chromosome deletion.
Neuron. 1989 Jan;2(1):1069-76
PMID: 2483108
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Linkage localization of Börjeson-Forssman-Lehmann syndrome.
Am J Med Genet. 1989 Dec;34(4):470-4
PMID: 2624254
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Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.
Am J Med Genet. 1989 Dec;34(4):463-9
PMID: 2624253
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Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
Proc Natl Acad Sci U S A. 1989 Dec;86(24):10001-5
PMID: 2602357
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The recurrence risks for mild idiopathic mental retardation.
J Med Genet. 1989 Apr;26(4):260-6
PMID: 2785601
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Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.
Am J Med Genet. 1989 Apr;32(4):461-7
PMID: 2773986
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The relevance of human genetics in the medical curriculum.
Am J Hum Genet. 1989 Jul;45(1):167-8
PMID: 2741947
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MASA syndrome: further clinical delineation and chromosomal localisation.
Hum Genet. 1989 Jul;82(4):367-70
PMID: 2737668
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The gene for incontinentia pigmenti is assigned to Xq28.
Genomics. 1989 Apr;4(3):427-9
PMID: 2714798
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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
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Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq.
Am J Med Genet. 1987 Sep;28(1):245-53
PMID: 2890303
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Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
Am J Med Genet. 1988 May-Jun;30(1-2):493-508
PMID: 3177467
-
A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.
Am J Med Genet. 1988 May-Jun;30(1-2):485-91
PMID: 3177466
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Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.
Am J Med Genet. 1988 May-Jun;30(1-2):473-83
PMID: 3177465
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Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.
Am J Med Genet. 1988 May-Jun;30(1-2):287-99
PMID: 3177455
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X-linked mental retardation associated with psoriasis: a new syndrome?
Am J Med Genet. 1988 May-Jun;30(1-2):263-73
PMID: 3177453
-
X-linked mental retardation with dystonic movements of the hands.
Am J Med Genet. 1988 May-Jun;30(1-2):251-62
PMID: 3177452
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Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation.
Am J Dis Child. 1988 Mar;142(3):297-300
PMID: 3344717
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Fragile X syndrome.
Curr Probl Pediatr. 1987 Nov;17(11):621-74
PMID: 3325231
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X-linked mental retardation with marfanoid habitus.
Am J Med Genet. 1987 Oct;28(2):267-74
PMID: 3322000
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Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter.
Hum Genet. 1987 Feb;75(2):136-9
PMID: 3469136
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X-linked hydrocephalus.
Am J Med Genet. 1987 Aug;27(4):921-8
PMID: 3425602
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Fragile X transmission and the determination of carrier probabilities for genetic counseling.
Am J Med Genet. 1987 Apr;26(4):987-90
PMID: 3591842
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FG syndrome.
J Med Genet. 1987 Mar;24(3):139-43
PMID: 3572995
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Causal origins of major mental handicap in the Canadian Maritime provinces.
Dev Med Child Neurol. 1986 Dec;28(6):697-707
PMID: 3817308
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A new X-linked mental retardation syndrome.
Am J Med Genet. 1987 Jan;26(1):13-5
PMID: 3812552
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Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
Am J Hum Genet. 1990 Sep;47(3):454-8
PMID: 2393020
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Allan-Herndon syndrome. I. Clinical studies.
Am J Hum Genet. 1990 Sep;47(3):446-53
PMID: 2393019
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Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.
Am J Hum Genet. 1990 Aug;47(2):187-95
PMID: 2378346
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Microdissection of the fragile X region.
Am J Hum Genet. 1990 Aug;47(2):181-6
PMID: 2378345
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Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
J Med Genet. 1990 May;27(5):339-40
PMID: 2352265
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Genetic counseling in rare syndromes: a resampling method for determining an approximate confidence interval for gene location with linkage data from a single pedigree.
Am J Hum Genet. 1990 Jul;47(1):53-61
PMID: 2349950
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Population genetic consequences of the fragile-X syndrome, based on the X-inactivation imprinting model.
Am J Hum Genet. 1990 Mar;46(3):443-51
PMID: 2309697
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Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes.
Am J Hum Genet. 1990 Jan;46(1):95-106
PMID: 2294758
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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.
Ann Neurol. 1983 Oct;14(4):471-9
PMID: 6638958
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Fragile X-linked mental retardation: the Martin-Bell syndrome.
J Ment Defic Res. 1981 Dec;25 Pt 4:253-6
PMID: 7328634
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A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.
Am J Hum Genet. 1980 Sep;32(5):714-22
PMID: 6107045
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Four brothers with mental retardation, spastic paraplegia and palmoplantar hyperkeratosis. A new syndrome?
Clin Genet. 1983 Apr;23(4):329-35
PMID: 6221837
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Conference report: International Workshop on the fragile X and X-linked mental retardation.
Am J Med Genet. 1984 Jan;17(1):5-94
PMID: 6369987
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Mental retardation-clasped thumb syndrome.
Am J Med Genet. 1984 Jan;17(1):339-44
PMID: 6538754
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X-linked mental retardation associated with bilateral clasp thumb anomaly.
Am J Med Genet. 1984 Jan;17(1):333-8
PMID: 6538753