Published in J Med Genet on July 01, 1995
Waardenburg syndrome. J Med Genet (1997) 2.66
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet (2011) 1.01
Familiar hypopigmentation syndrome in sheep associated with homozygous deletion of the entire endothelin type-B receptor gene. PLoS One (2012) 0.77
Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet (1984) 28.51
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet (1974) 23.66
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet (1951) 12.38
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell (1994) 4.35
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell (1994) 3.95
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature (1992) 3.63
The GDB human genome data base anno 1993. Nucleic Acids Res (1993) 3.51
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.46
Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33
Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell (1991) 3.21
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet (1994) 2.99
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature (1992) 2.63
White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr (1981) 2.51
The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet (1979) 1.94
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet (1992) 1.94
Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Artic Ser (1971) 1.93
Association of megacolon with two recessive spotting genes in the mouse. J Hered (1966) 1.83
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet (1993) 1.64
A microsatellite genetic linkage map of human chromosome 13. Genomics (1993) 1.57
Microsatellite polymorphism linkage map of human chromosome 13q. Genomics (1993) 1.56
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat Genet (1994) 1.44
Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet (1989) 1.43
Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet (1993) 1.42
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. Am J Hum Genet (1990) 1.37
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet (1992) 1.27
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum Mol Genet (1992) 1.23
Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet (1994) 1.23
Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum Genet (1984) 1.18
Upper limb involvement in the Klein-Waardenburg syndrome. Am J Med Genet (1982) 1.08
A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. Hum Genet (1991) 1.07
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet (1994) 1.06
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). Am J Med Genet (1989) 1.05
Fine structure mapping and deletion analysis of the murine piebald locus. Genetics (1994) 1.01
Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. Am J Med Genet (1987) 0.99
Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. Hum Mol Genet (1993) 0.98
Prometaphase banding of human chromosomes with basic fuchsin. Hum Genet (1982) 0.98
Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q. Am J Hum Genet (1991) 0.97
Deletions in chromosome 2 and fragile sites. Am J Med Genet (1990) 0.94
Optimization of microsatellite analysis for genetic mapping. Genomics (1993) 0.93
Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Med Genet (1983) 0.92
Association of 13q deletion and Hirschsprung's disease. J Med Genet (1989) 0.90
Waardenburg and Hirschsprung syndromes. J Pediatr (1983) 0.89
Report of the First International Workshop on Human Chromosome 13 Mapping. Dallas, Texas, September 21-22, 1992. Cytogenet Cell Genet (1993) 0.81
Waardenburg's syndrome and Hirschsprung's disease in the same patient. Clin Genet (1980) 0.81
Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred. Am J Med Genet (1994) 0.80
A 4.5-megabase yeast artificial chromosome contig from human chromosome 13q14.3 ordering 9 polymorphic microsatellites (22 sequence-tagged sites) tightly linked to the Wilson disease locus. Proc Natl Acad Sci U S A (1993) 0.78
Possible prevention of neural-tube defects by periconceptional vitamin supplementation. Lancet (1980) 10.23
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Teratogenicity of high vitamin A intake. N Engl J Med (1995) 5.53
Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet (1983) 4.02
Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. Circulation (1998) 3.89
Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med (1988) 3.82
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature (1992) 3.63
A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet (1993) 3.58
Apparent prevention of neural tube defects by periconceptional vitamin supplementation. Arch Dis Child (1981) 3.45
Maternal serum AFP secreening. N Engl J Med (1978) 3.17
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet (1999) 3.01
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet (1994) 2.99
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80
Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci U S A (1990) 2.79
Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981. Int J Epidemiol (2011) 2.68
Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature (1992) 2.63
Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature (1987) 2.54
Comparison of pregnancy outcome after amniocentesis for previous neural tube defect or raised maternal serum alphafetoprotein. Br J Obstet Gynaecol (1980) 2.50
Absence of association or genetic linkage between the angiotensin-converting-enzyme gene and left ventricular mass. N Engl J Med (1996) 2.49
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet (1993) 2.47
The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. JAMA (1997) 2.45
Head injury and the risk of AD in the MIRAGE study. Neurology (2000) 2.34
Prenatal genetic diagnosis (second of three parts). N Engl J Med (1970) 2.29
Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis. Hum Reprod (2009) 2.26
Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay. Obstet Gynecol (1977) 2.24
Consanguinity and complex cardiac anomalies with situs ambiguus. Arch Dis Child (1984) 2.21
Clinical significance of tolerant strains of Staphylococcus aureus in patients with endocarditis. Ann Intern Med (1980) 2.16
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat Genet (1999) 2.01
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A (1985) 2.00
Methotrexate-induced congenital malformations. J Pediatr (1968) 2.00
Cytogenetics of infertile men. Hum Reprod (1996) 2.00
PAX genes. Curr Opin Genet Dev (1994) 1.92
Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. J Med Genet (1989) 1.91
Antimicrobial activity of the essential oil from Lippia sidoides, carvacrol and thymol against oral pathogens. Braz J Med Biol Res (2007) 1.87
Risk of dementia among relatives of Alzheimer's disease patients in the MIRAGE study: What is in store for the oldest old? Neurology (1996) 1.85
A genetic model for age at onset in Huntington disease. Am J Hum Genet (1985) 1.82
Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
Duty to re-contact. Genet Med (2001) 1.80
Mental development of 201 ICSI children at 2 years of age. Lancet (1998) 1.79
The natural history of Huntington disease: possible role of "aging genes". Am J Med Genet (1984) 1.79
Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. JAMA (1998) 1.76
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet (1998) 1.75
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet (2005) 1.69
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet (1993) 1.67
Antiinflammatory and antinociceptive effects of 1,8-cineole a terpenoid oxide present in many plant essential oils. Phytother Res (2000) 1.67
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet (1993) 1.64
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet (1997) 1.64
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. Nat Genet (2000) 1.63
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet (1999) 1.62
The evolution and outcome of pregnancies from oocyte donation. Hum Reprod (1994) 1.58
Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet (1990) 1.57
Estimation of morbid risk and age at onset with missing information. Am J Hum Genet (1991) 1.56
Suicide and attempted suicide in Huntington disease: implications for preclinical testing of persons at risk. Am J Med Genet (1986) 1.55
Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects. Mol Hum Reprod (2000) 1.55
Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet (1988) 1.54
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52
Menière's disease: an immune complex-mediated illness? Laryngoscope (1991) 1.52
No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. Genomics (1996) 1.45
Postmenopausal hormone therapy and Alzheimer's disease risk: interaction with age. J Neurol Neurosurg Psychiatry (2005) 1.45
APOE, vascular pathology, and the AD brain. Neurology (2005) 1.44
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat Genet (1994) 1.44
Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet (2000) 1.40
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet (1996) 1.40
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. Am J Hum Genet (1990) 1.37
Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenomics J (2007) 1.33
Increased platelet aggregability associated with platelet GPIIIa PlA2 polymorphism: the Framingham Offspring Study. Arterioscler Thromb Vasc Biol (1999) 1.33
Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod (2000) 1.32
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet (1995) 1.32
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet (1997) 1.31
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. J Med Genet (2003) 1.31
Neonatal outcome of 937 children born after transfer of cryopreserved embryos obtained by ICSI and IVF and comparison with outcome data of fresh ICSI and IVF cycles. Hum Reprod (2008) 1.30
Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment. Mol Psychiatry (2013) 1.30
A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 1.29
Neural tube defect recurrence after 'partial' vitamin supplementation. J Med Genet (1989) 1.27
International collaborative study of intracytoplasmic sperm injection-conceived, in vitro fertilization-conceived, and naturally conceived 5-year-old child outcomes: cognitive and motor assessments. Pediatrics (2005) 1.27
Application of cardiovascular disease risk prediction models and the relevance of novel biomarkers to risk stratification in Asian Indians. Vasc Health Risk Manag (2008) 1.26
Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting. J Med Genet (1991) 1.25
Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics (1967) 1.25
Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. Am J Hum Genet (1987) 1.24
Homozygote for Huntington disease. Am J Hum Genet (1989) 1.23
Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med (1975) 1.22
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet (1997) 1.21
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet (1991) 1.19
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr (1976) 1.19
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet (1999) 1.17
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet (1986) 1.17
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. J Med Genet (1987) 1.17
Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene. Lancet (1991) 1.17
Effects of misoprostol on pentylenetetrazol-induced seizures in mice. Arq Neuropsiquiatr (1997) 1.17
Norrie disease resulting from a gene deletion: clinical features and DNA studies. J Med Genet (1988) 1.17