Published in Clin Genet on July 01, 1988
Identification and characterization of a second melanin-concentrating hormone receptor, MCH-2R. Proc Natl Acad Sci U S A (2001) 1.24
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics (2012) 1.04
Common variation in SIM1 is reproducibly associated with BMI in Pima Indians. Diabetes (2009) 1.04
Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype. Mol Syndromol (2010) 0.95
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am J Hum Genet (2014) 0.92
Evaluation of A2BP1 as an obesity gene. Diabetes (2010) 0.91
Functional characterization of SIM1-associated enhancers. Hum Mol Genet (2013) 0.76
A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain. Clin Case Rep (2015) 0.75
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09
Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells. Proc Natl Acad Sci U S A (1982) 10.50
The human c-myc oncogene: structural consequences of translocation into the IgH locus in Burkitt lymphoma. Cell (1983) 8.54
Translocations among antibody genes in human cancer. Science (1983) 6.20
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst (1998) 6.06
BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA (1996) 5.95
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet (1998) 3.94
Translocation of an immunoglobulin kappa locus to a region 3' of an unrearranged c-myc oncogene enhances c-myc transcription. Proc Natl Acad Sci U S A (1983) 3.75
Epstein-Barr virus-induced genes: first lymphocyte-specific G protein-coupled peptide receptors. J Virol (1993) 3.19
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet (1996) 2.97
Cytogenetic studies on African Burkitt's lymphoma cell lines: t(8;14), t(2;8) and t(8;22) translocations. Cancer Genet Cytogenet (1981) 2.74
A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer (1997) 2.53
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet (1997) 2.45
Translocation of oncogene c-sis from chromosome 22 to chromosome 11 in a Ewing sarcoma-derived cell line. Mol Cell Biol (1985) 2.45
Increasing incidence of breast cancer in family with BRCA1 mutation. Lancet (1993) 2.33
Activation of latent Epstein-Barr virus by antibody to human IgM. Nature (1978) 2.33
Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet (1996) 2.06
DNA screening for breast/ovarian cancer susceptibility based on linked markers. A family study. Arch Intern Med (1993) 1.91
BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet (1995) 1.75
When Epstein-Barr virus persistently infects B-cell lines, it frequently integrates. J Virol (1991) 1.70
Genetic heterogeneity of breast-ovarian cancer revisited. Breast Cancer Linkage Consortium. Am J Hum Genet (1995) 1.68
Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome. Science (1987) 1.67
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet (1976) 1.63
Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). Ann Genet (1984) 1.62
Superinfection epithelial nasopharyngeal carcinoma cells with Epstein-Barr virus. Proc Natl Acad Sci U S A (1976) 1.58
[Intercalary deletions of 9q]. Ann Genet (1978) 1.58
Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int (1978) 1.56
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet (1998) 1.54
Serum interleukin-10 in non-Hodgkin's lymphoma: a prognostic factor. Blood (1993) 1.52
In-situ breast cancer and BRCA1. Lancet (1996) 1.52
Deletions involving two distinct regions of 6q in B-cell non-Hodgkin lymphoma. Blood (1992) 1.51
[5-21-22 translocation and the crying cat syndrome]. Ann Genet (1965) 1.50
Partial trisomy 9q: a new syndrome. Humangenetik (1975) 1.46
Presence of Epstein-Barr virus receptors, but absence of virus penetration, in cells of an Epstein-Barr virus genome-negative human lymphoblastoid T line (Molt 4). J Virol (1977) 1.44
Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. Hum Genet (1984) 1.42
[2 familial translocations occurring together in each of 2 sisters, one balanced, the other partial trisomic 10q]. Ann Genet (1972) 1.38
Characterization of an Epstein-Barr virus-induced DNA polymerase. J Virol (1979) 1.36
Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer (1995) 1.35
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. Ann Genet (1980) 1.34
Autocrine growth stimulation of a human T-cell lymphoma line by interleukin 2. Proc Natl Acad Sci U S A (1985) 1.32
[48, XXXX syndrome in a six year old child. Abnormal transmission of group Xg]. Ann Genet (1968) 1.26
Molecular epidemiology of chronic pulmonary colonisation by Pseudomonas aeruginosa in cystic fibrosis. J Med Microbiol (1993) 1.26
Replication of Epstein-Barr virus: ultrastructural and immunofluorescent studies of P3HR1-superinfected Raji cells. J Virol (1977) 1.26
In vivo correlates for Streptococcus pneumoniae penicillin resistance in acute otitis media. Antimicrob Agents Chemother (1995) 1.23
[46, XX, 1q-, 2q-, Dq+, 16q+ karyotype in a polymalformed child]. Ann Genet (1968) 1.20
Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: exclusion of candidate genes EDH17B2 and RARA. Hum Mol Genet (1993) 1.19
[Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+]. Ann Genet (1971) 1.18
Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers. Hum Genet (1977) 1.17
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22). Nucleic Acids Res (1983) 1.17
Final case reporting from the Ugandan prospective study of the relationship between EBV and Burkitt's lymphoma. Int J Cancer (1982) 1.16
Distribution of androgen and estrogen receptors among lymphoid and haemopoietic cell lines. Leuk Res (1985) 1.15
A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation. J Clin Endocrinol Metab (1997) 1.14
Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma. Proc Natl Acad Sci U S A (1989) 1.14
Antibody responses to two Epstein-Barr virus nuclear antigens defined by gene transfer. N Engl J Med (1985) 1.14
Evaluation of nasopharyngeal cultures for bacteriologic assessment of acute otitis media in children. Pediatr Infect Dis J (1996) 1.13
An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Cancer Genet Cytogenet (1999) 1.12
A translocated human c-myc oncogene is altered in a conserved coding sequence. Proc Natl Acad Sci U S A (1986) 1.12
Distal trisomy 17q. Clin Genet (1979) 1.12
Chromosomal abnormalities and congenital heart disease. Circulation (1967) 1.12
NF2 gene in neurofibromatosis type 2 patients. Hum Mol Genet (1998) 1.11
Risk modifiers in carriers of BRCA1 mutations. Int J Cancer (1995) 1.10
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. J Clin Invest (1998) 1.10
Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism. Hum Genet (1987) 1.09
[Distal 14q trisomy]. Ann Genet (1983) 1.09
X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female. Clin Genet (1989) 1.09
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum Genet (1986) 1.09
Are clinical and biological IVF parameters correlated with chromosomal disorders in early life: a multicentric study. Hum Reprod (1988) 1.08
Proteinase 3, a potent secretagogue in airways, is present in cystic fibrosis sputum. Am J Respir Cell Mol Biol (1999) 1.08
Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2. Oncogene (1999) 1.07
The prevalence of naturally occurring antibodies to human syncytial virus in East African populations. J Gen Virol (1980) 1.06
[Chromosome analyses in idiopathic acquired sideroblastic anemia. A study of 6 cases]. Nouv Rev Fr Hematol (1967) 1.06
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet (1992) 1.05
Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D. Hum Genet (1981) 1.04
Cell cycle dependence for activation of Epstein-Barr virus by inhibitors of protein synthesis or medium deficient in arginine. Virology (1976) 1.03
Trisomy 18q-. Trisomy mapping of chromosome 18 revisited. Clin Genet (1980) 1.03
In vitro pathogenetic studies of coeliac disease. Effects of protein digests on coeliac intestinal biopsy specimens maintained in culture for 48 hours. Scand J Gastroenterol (1975) 1.02
Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum Genet (1988) 1.02
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. Am J Hum Genet (1998) 1.01
Regional assignment of the ADA locus on 20q13.2 leads to qter by gene dosage studies. Cytogenet Cell Genet (1980) 1.01
Absence of association between HPV DNA, TP53 codon 72 polymorphism, and risk of oesophageal cancer in a high-risk area of China. Cancer Lett (2001) 1.01
Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3). Ann Genet (1982) 1.01
Fish rhabdoviruses: comparative study of protein structure. J Virol (1975) 1.01
Disturbed myeloperoxidase-dependent activity of neutrophils in cystic fibrosis homozygotes and heterozygotes, and its correction by amiloride. J Immunol (1996) 1.00
[Fibroblasts in culture during mucopolysaccharidoses: the effect of serum on metachromasy]. Ann Genet (1968) 1.00
Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band. Humangenetik (1974) 1.00
Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. Ann Genet (1985) 1.00
[21 p-maternal in duplicate in a case of trisomy 21]. Ann Genet (1970) 0.99
[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)]. Ann Genet (1980) 0.99
Four new haplotypes observed in Algerian beta-thalassemia patients. Hum Genet (1983) 0.99
Del11p13/nephroblastoma without aniridia. Hum Genet (1984) 0.99
Increased PIVKA-II concentrations in patients with cystic fibrosis. J Clin Pathol (1992) 0.99
Selective lack of antibody to a component of EB nuclear antigen in patients with chronic active Epstein-Barr virus infection. J Infect Dis (1987) 0.99
A complex familial chromosome translocation. Am J Hum Genet (1965) 0.98
Structural proteins of foot-and-mouth disease virus. J Gen Virol (1973) 0.98
Elevated plasma 1,25-dihydroxyvitamin D concentrations in infants with hypercalcemia and an elfin facies. N Engl J Med (1985) 0.98