-
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Nat Genet. 2003 Aug;34(4):434-9
PMID: 12858176
-
Online Mendelian Inheritance in Animals (OMIA): a comparative knowledgebase of genetic disorders and other familial traits in non-laboratory animals.
Nucleic Acids Res. 2003 Jan 1;31(1):275-7
PMID: 12520001
-
The use of inappropriate, demeaning, and pejorative terminology to describe syndromes.
Am J Med Genet A. 2006 Feb 15;140(4):410-1; discussion 412
PMID: 16419131
-
The use of inappropriate, demeaning, and pejorative terminology in gene nomenclature: a comment on Feingold.
Am J Med Genet A. 2006 Jul 1;140(13):1485-6
PMID: 16691585
-
Problems in the naming of genes.
Am J Med Genet A. 2006 Jul 1;140(13):1483-4
PMID: 16718675
-
Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines.
Oncogene. 2002 Jun 20;21(27):4345-9
PMID: 12082624
-
On the X chromosome of man.
Q Rev Biol. 1962 Jun;37:69-175
PMID: 13932119
-
Global variation in copy number in the human genome.
Nature. 2006 Nov 23;444(7118):444-54
PMID: 17122850
-
Hereditary pancreatitis caused by triplication of the trypsinogen locus.
Nat Genet. 2006 Dec;38(12):1372-4
PMID: 17072318
-
Linkage and gene localization of hereditary spherocytosis (HS).
Blood. 1978 Nov;52(5):859-67
PMID: 100151
-
The fundamental role of epigenetic events in cancer.
Nat Rev Genet. 2002 Jun;3(6):415-28
PMID: 12042769
-
Probable assignment of the Duffy blood group locus to chromosome 1 in man.
Proc Natl Acad Sci U S A. 1968 Nov;61(3):949-55
PMID: 5246559
-
OMIM passes the 1,000-disease-gene mark.
Nat Genet. 2000 May;25(1):11
PMID: 10802643
-
Epigenetics in human disease and prospects for epigenetic therapy.
Nature. 2004 May 27;429(6990):457-63
PMID: 15164071
-
A breakpoint map of recurrent chromosomal rearrangements in human neoplasia.
Nat Genet. 1997 Apr;15 Spec No:417-74
PMID: 9140409
-
Human thymidine kinase gene locus: assignment to chromosome 17 in a hybrid of man and mouse cells.
Science. 1971 Jul 16;173(3993):244-5
PMID: 5104177
-
Heritable fragile site on chromosome 16: probable localization of haptoglobin locus in man.
Science. 1970 Oct 2;170(3953):85-7
PMID: 5452897
-
Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization.
Proc Natl Acad Sci U S A. 1994 Mar 15;91(6):2156-60
PMID: 8134364
-
Genomics and medicine. Dissecting human disease in the postgenomic era.
Science. 2001 Feb 16;291(5507):1224-9
PMID: 11233446
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
Science. 1994 Jun 10;264(5165):1604-8
PMID: 8202715
-
The history of cancer epigenetics.
Nat Rev Cancer. 2004 Feb;4(2):143-53
PMID: 14732866
-
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.
Hum Mutat. 2000;15(1):7-12
PMID: 10612815
-
Salt wasting and deafness resulting from mutations in two chloride channels.
N Engl J Med. 2004 Mar 25;350(13):1314-9
PMID: 15044642
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
Science. 2005 Mar 4;307(5714):1434-40
PMID: 15637236
-
Chromosome maps of man and mouse. IV.
Ann Hum Genet. 1989 May;53(2):89-140
PMID: 2688541
-
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
-
Nomenclature for the description of human sequence variations.
Hum Genet. 2001 Jul;109(1):121-4
PMID: 11479744
-
THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH.
Cold Spring Harb Symp Quant Biol. 1964;29:99-114
PMID: 14280821
-
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
J Med Genet. 2006 Apr;43(4):306-14
PMID: 16155193
-
The common variants/multiple disease hypothesis of common complex genetic disorders.
Med Hypotheses. 2004;62(2):309-17
PMID: 14962646
-
Human hypertension caused by mutations in WNK kinases.
Science. 2001 Aug 10;293(5532):1107-12
PMID: 11498583
-
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.
Science. 1993 Aug 13;261(5123):921-3
PMID: 8346443
-
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.
Hum Mutat. 1998;11(1):1-3
PMID: 9450896
-
Molecular mechanisms of human hypertension.
Cell. 2001 Feb 23;104(4):545-56
PMID: 11239411
-
Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Hum Genet. 2001 Jul;109(1):55-62
PMID: 11479736
-
Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases.
Lancet. 1993 Sep 18;342(8873):710-1
PMID: 8103823
-
Mendelian disorders deserve more attention.
Nat Rev Genet. 2006 Apr;7(4):277-82
PMID: 16534515
-
Modifier genes in mice and humans.
Nat Rev Genet. 2001 Mar;2(3):165-74
PMID: 11256068
-
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.
Nature. 2006 Feb 16;439(7078):851-5
PMID: 16482158
-
Hypomethylation distinguishes genes of some human cancers from their normal counterparts.
Nature. 1983 Jan 6;301(5895):89-92
PMID: 6185846
-
Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex.
Am J Hum Genet. 2002 Oct;71(4):823-37
PMID: 12226794
-
Loss of IGF2 imprinting: a potential marker of colorectal cancer risk.
Science. 2003 Mar 14;299(5613):1753-5
PMID: 12637750
-
A GENETICAL VIEW OF CARDIOVASCULAR DISEASE. THE LEWIS A. CONNER MEMORIAL LECTURE.
Circulation. 1964 Sep;30:326-57
PMID: 14210613
-
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
Am J Hum Genet. 1996 May;58(5):923-32
PMID: 8651276
-
Chromosome maps of man and mouse, III.
Genomics. 1987 Sep;1(1):3-18
PMID: 3311967
-
Guidelines for human gene nomenclature.
Genomics. 2002 Apr;79(4):464-70
PMID: 11944974
-
A celebration and a farewell.
Nat Genet. 1997 Jul;16(3):209-10
PMID: 9235169
-
Chromosome maps of man and mouse II.
Clin Genet. 1984 Jul;26(1):1-11
PMID: 6467650
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7
PMID: 15608251
-
A marker X chromosome.
Am J Hum Genet. 1969 May;21(3):231-44
PMID: 5794013
-
A 60-year tale of spots, maps, and genes.
Annu Rev Genomics Hum Genet. 2006;7:1-27
PMID: 16824022
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Science. 2001 Sep 21;293(5538):2256-9
PMID: 11567139
-
Further evidence for location of the spherocytosis gene on chromosome 8.
Ann Intern Med. 1983 Aug;99(2):192-3
PMID: 6881776
-
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring.
J Cell Biol. 1990 Sep;111(3):1089-105
PMID: 2391361
-
Contiguous gene syndromes: a component of recognizable syndromes.
J Pediatr. 1986 Aug;109(2):231-41
PMID: 3016222
-
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.
Hum Genet. 1976 Sep 10;34(1):35-43
PMID: 184030
-
Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28.
Genomics. 1993 Aug;17(2):496-8
PMID: 8406501
-
GENETIC STUDIES OF THE AMISH, BACKGROUND AND POTENTIALITIES.
Bull Johns Hopkins Hosp. 1964 Sep;115:203-22
PMID: 14209042
-
Multiple genes for essential-hypertension susceptibility on chromosome 1q.
Am J Hum Genet. 2007 Feb;80(2):253-64
PMID: 17236131
-
On lumpers and splitters, or the nosology of genetic disease.
Perspect Biol Med. 1969 Winter;12(2):298-312
PMID: 4304823
-
Human-mouse somatic cell hybrids with single human chromosome (group E): link with thymidine kinase activity.
Science. 1968 Nov 29;162(3857):1005-6
PMID: 5698836