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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

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Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. Am J Med Genet (1994) 1.56

Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome. Am J Med Genet (2002) 1.39

Prenatal exposure to sex hormones: a case-control study. Teratology (1998) 1.39

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

Preaxial polydactyly of feet in infants of diabetic mothers: epidemiological test of a clinical hypothesis. Am J Med Genet (1992) 1.12

Genetic syndromes mimic congenital infections. J Pediatr (2005) 1.11

Cyclopia and sirenomelia in a liveborn infant. J Med Genet (1998) 1.09

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Bonding trends of thiosemicarbazones in mononuclear and dinuclear copper(I) complexes: syntheses, structures, and theoretical aspects. Inorg Chem (2006) 0.98

Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. Am J Med Genet (1998) 0.97

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Pre-gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes. Diabet Med (2005) 0.95

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

Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis. Am J Med Genet (1994) 0.93

Value of clinical analysis in epidemiological research: the Spanish registry experience. Am J Med Genet (1991) 0.92

The outcome of pregnancy in 689 women exposed to therapeutic doses of antidepressants. A collaborative study of the European Network of Teratology Information Services (ENTIS). Reprod Toxicol (1997) 0.92

Congenital anomalies in the offspring of mothers with a bicornuate uterus. Pediatrics (1998) 0.91

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Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry. Am J Med Genet (1994) 0.91

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De novo interstitial deletion q16.2q21 on chromosome 6. Am J Med Genet (1995) 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

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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

Prevalence of congenital anomaly syndromes in a Spanish gypsy population. J Med Genet (1992) 0.85

Probing the surface area of a cement-based material by nuclear magnetic relaxation dispersion. Phys Rev Lett (2003) 0.85

Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry. Teratology (1999) 0.85

Congenital healed cleft lip. Am J Med Genet (1995) 0.84

The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet (2001) 0.84

Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes. Am J Med Genet (1991) 0.84

Folic acid supplementation and neural tube defects. Lancet (1992) 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

Analysis of deformations in 26,810 consecutive infants with congenital defects. Am J Med Genet (1999) 0.83

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Anticonvulsant drugs and malformations is there a drug specificity? Eur J Epidemiol (1989) 0.82

Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet (1995) 0.82

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Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene? Hum Genet (1996) 0.81

On the symmetry of limb deficiencies among children with multiple congenital anomalies. Ann Genet (2001) 0.81

Anal atresia, vertebral, genital, and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations. Am J Med Genet (2000) 0.81

Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity? Am J Med Genet (1992) 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

Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: comparative epidemiology. Am J Med Genet (2000) 0.81

Chromosome 4p16 and osteochondroplasias. Nat Genet (1994) 0.81

Ectrodactyly in trisomy 13 syndrome. Am J Med Genet (1994) 0.80

Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye 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

Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects. Am J Med Genet (2000) 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

Oral contraceptives in the etiology of isolated hypospadias. Contraception (1991) 0.79

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Amelia: analysis of its epidemiological and clinical characteristics. Am J Med Genet (1997) 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

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history. Am J Med Genet A (2007) 0.79

Periconceptional exposure to contraceptive pills and risk for Down syndrome. J Perinatol (2001) 0.79