Published in Am J Med Genet on January 30, 1995
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
The neuropathology of obesity: insights from human disease. Acta Neuropathol (2013) 0.91
Evaluation of A2BP1 as an obesity gene. Diabetes (2010) 0.91
Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature. Curr Genomics (2011) 0.84
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. Eur J Hum Genet (2014) 0.80
Functional characterization of SIM1-associated enhancers. Hum Mol Genet (2013) 0.76
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome. Mol Cytogenet (2015) 0.75
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. Clin Case Rep (2017) 0.75
New acrofacial dysostosis syndrome in 3 sibs. Am J Med Genet (1990) 2.63
Birth prevalence study of the Apert syndrome. Am J Med Genet (1992) 2.10
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet (2003) 2.03
The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet (1997) 1.91
Characterization of the A673 cell line (Ewing tumor) by molecular cytogenetic techniques. Cancer Genet Cytogenet (2003) 1.70
Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet (1998) 1.56
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. Am J Med Genet (1994) 1.56
Fluorescence in situ hybridization study of TEL/AML1 fusion and other abnormalities involving TEL and AML1 genes. Correlation with cytogenetic findings and prognostic value in children with acute lymphocytic leukemia. Haematologica (2001) 1.41
Corticosteroids during pregnancy and oral clefts: a case-control study. Teratology (1998) 1.39
Tracheoesophageal and anal atresia in prenatal children exposed to a high dose of alcohol. Am J Med Genet (1991) 1.38
Epidemiological study of gastroschisis and omphalocele in Spain. Teratology (1984) 1.36
The cyclops and the mermaid: an epidemiological study of two types of rare malformation. J Med Genet (1992) 1.29
MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer. Clin Genet (2007) 1.17
Genetic syndromes mimic congenital infections. J Pediatr (2005) 1.11
Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review. Acta Neurochir (Wien) (2004) 1.10
Cyclopia and sirenomelia in a liveborn infant. J Med Genet (1998) 1.09
An unusual variant of chromosome 16. Two new cases. Hum Genet (1988) 1.09
Chromosomal changes pattern and gene amplification in T cell non-Hodgkin's lymphomas. Leukemia (2001) 1.08
[Achondroplasia: molecular study of 28 patients]. Med Clin (Barc) (1998) 1.06
A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. Hum Mutat (2006) 1.02
Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems. Am J Med Genet (2000) 1.00
Parental fertility and infant hypospadias: an international case-control study. Teratology (1991) 0.97
Epidemiological analysis of rare polydactylies. Am J Med Genet (1996) 0.95
Methimazole in animal feed and congenital aplasia cutis. Lancet (1992) 0.94
Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. Am J Med Genet (1997) 0.93
Value of clinical analysis in epidemiological research: the Spanish registry experience. Am J Med Genet (1991) 0.92
Prenatal exposure to valproic acid during pregnancy and limb deficiencies: a case-control study. Am J Med Genet (2000) 0.91
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. Ann Oncol (2010) 0.90
Gastroschisis: is the prevalence increasing? Am J Med Genet (1994) 0.90
Another way to interpret the description of the Monster of Ravenna of the sixteenth century. Am J Med Genet (1994) 0.88
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet (2007) 0.87
A small and active ring X chromosome in a female with features of Kabuki syndrome. Am J Med Genet A (2008) 0.87
Megadose vitamin A and teratogenicity. Lancet (1988) 0.86
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. Am J Med Genet (1993) 0.86
Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum. J Med Genet (1993) 0.85
Congenital healed cleft lip. Am J Med Genet (1995) 0.84
DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas. Br J Cancer (2013) 0.84
Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome? Am J Med Genet (1992) 0.84
Folic acid supplementation and neural tube defects. Lancet (1992) 0.84
Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients. Breast Cancer Res Treat (2014) 0.84
Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies. Am J Med Genet (1993) 0.84
Ring chromosome 7 and sacral agenesis. Am J Med Genet (2000) 0.83
[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain]. An Esp Pediatr (1999) 0.82
A new case of fibrochondrogenesis from Spain. J Med Genet (1996) 0.82
Anticonvulsant drugs and malformations is there a drug specificity? Eur J Epidemiol (1989) 0.82
Subtelomeric deletion of 12p: Description of a third case and review. Am J Med Genet A (2010) 0.82
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion. Am J Med Genet (1997) 0.82
Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet (1995) 0.82
Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations. Am J Med Genet (1997) 0.81
Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry). Am J Med Genet (1995) 0.81
Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene? Hum Genet (1996) 0.81
New case of limb body-wall complex associated with sirenomelia sequence. Am J Med Genet (1992) 0.81
Chromosome 4p16 and osteochondroplasias. Nat Genet (1994) 0.81
Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence. Am J Med Genet (1994) 0.81
Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity? Am J Med Genet (1992) 0.81
Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome. Am J Med Genet (1994) 0.80
Ectrodactyly in trisomy 13 syndrome. Am J Med Genet (1994) 0.80
DK-phocomelia syndrome in a child with a long follow-up. Am J Med Genet (1994) 0.80
Importance of family history in colorectal cancer clinical practice. Colorectal Dis (2010) 0.80
Segmentation anomalies of the vertebras and ribs: one expression of the primary developmental field. Am J Med Genet A (2004) 0.79
Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia. Am J Med Genet (1996) 0.79
[Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?]. An Pediatr (Barc) (2010) 0.79
Oral contraceptives in the etiology of isolated hypospadias. Contraception (1991) 0.79
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history. Am J Med Genet A (2007) 0.79
Array comparative genomic hybridization analysis of myelodysplastic syndromes with complex karyotypes. A technical evaluation. Cancer Genet Cytogenet (2003) 0.78
Approaches to the analysis of infants with multiple congenital anomalies. Am J Med Genet (2001) 0.78
Case-control studies using only malformed infants who were prenatally exposed to drugs. What do the results mean? Teratology (2000) 0.78
Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review. Am J Med Genet A (2007) 0.78
Analysis of the INK4a/ARF locus in non-Hodgkin's lymphomas using two new internal microsatellite markers. Leukemia (1999) 0.78
Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. J Gastroenterol (2014) 0.78
Problems of using data from Teratology Information Services (TIS) to identify putative teratogens. Teratology (1999) 0.78
Spina bifida and parental occupation: results from three malformation monitoring programs in Europe. Eur J Epidemiol (2000) 0.78
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. Am J Med Genet (1994) 0.77
Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl. Am J Med Genet (1997) 0.77
Surgical management of hereditary colorectal cancer: surgery based on molecular analysis and family history. Rev Esp Enferm Dig (2009) 0.77
Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? Am J Med Genet (1993) 0.77
Case-control studies using only malformed infants: are we interpreting the results correctly? Teratology (1999) 0.77
Allelic losses and genetic instabilities of PTEN and p73 in non-Hodgkin lymphomas. Leukemia (2000) 0.76
Hormone therapy during pregnancy and isolated hypospadias: an international case-control study. Int J Risk Saf Med (1992) 0.76
SMAD4 in early onset colorectal cancer. Colorectal Dis (2010) 0.75
Multiple vertebral segmentation defects and rib anomalies. Am J Med Genet (1996) 0.75
Video display terminals: risk of trisomy 18? Clin Genet (1995) 0.75
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. Am J Med Genet A (2003) 0.75
Major congenital malformations in Down syndrome. Am J Med Genet (1997) 0.75
Oral contraceptives and estrogen combinations (excluding progestogens) during the first trimester--clearly increased the risk of overall birth defects. Teratology (1998) 0.75
Acrofacial dysostosis syndromes. Am J Med Genet (1992) 0.75
Anorectal anomalies and Down syndrome. Am J Med Genet (1991) 0.75
Consanguineous marriages among parents of patients with Down syndrome. Clin Genet (1993) 0.75
Pseudotrisomy 13 syndrome. Am J Med Genet (1992) 0.75
Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary. Am J Med Genet (2002) 0.75
Correlation between drug exposure and major malformations. Am J Med Genet (1997) 0.75
Concurrence of germline mutations in the APC and PTEN genes in a colonic polyposis family member. J Clin Oncol (2004) 0.75
What does it mean to be a member of the Clearinghouse? Int J Risk Saf Med (1991) 0.75
It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor. Am J Med Genet (2001) 0.75