PubRank

Y Alembik

Author PubWeight™ 64.60‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births. Am J Med Genet 1994 2.40
2 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
3 Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet 1992 1.55
4 Associated malformations in cases with oral clefts. Cleft Palate Craniofac J 2000 1.47
5 Birth prevalence rates of skeletal dysplasias. Clin Genet 1989 1.43
6 Study of Down syndrome in 238,942 consecutive births. Ann Genet 1998 1.43
7 Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 2006 1.42
8 Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases. Prenat Diagn 2013 1.39
9 Brachydactyly and short stature in a mother and her daughter with a fragile site at 16q22. Genet Couns 1997 1.38
10 Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. J Dent Res 2008 1.20
11 Linkage analysis suggests at least two loci for X-linked non-specific mental retardation. Am J Med Genet 1988 1.18
12 Associated malformations in patients with anorectal anomalies. Eur J Med Genet 2007 1.12
13 Familial coarctation of the aorta in three generations. Ann Genet 1999 1.08
14 Congenital eye malformations in 212,479 consecutive births. Ann Genet 1997 1.08
15 Epidemiology of Down syndrome in 118,265 consecutive births. Am J Med Genet Suppl 1990 1.02
16 Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations. Hum Genet 1989 1.01
17 Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. Am J Med Genet 1988 1.01
18 Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births. Ann Genet 2001 1.00
19 Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France. J Med Genet 1991 1.00
20 Genetic and environmental factors in hypospadias. J Med Genet 1990 0.96
21 Risk factors in congenital heart disease. Eur J Epidemiol 1989 0.93
22 X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. Clin Genet 2010 0.92
23 Evaluation of prenatal diagnosis by a registry of congenital anomalies. Prenat Diagn 1992 0.91
24 Growth curves of children with Down syndrome. Ann Genet 1999 0.89
25 Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias. Eur J Epidemiol 1996 0.87
26 Evaluation of prenatal diagnosis of congenital heart disease. Prenat Diagn 1998 0.87
27 Evaluation of prenatal diagnosis of congenital heart disease. Prenat Diagn 1993 0.86
28 Associated malformations in cases with congenital diaphragmatic hernia. Genet Couns 2008 0.86
29 [Anomalies of thyroid function in children with Down syndrome]. Arch Pediatr 1997 0.85
30 Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker. Hum Genet 1988 0.83
31 Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet 2002 0.83
32 Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome? Am J Med Genet 1992 0.83
33 An epidemiologic study of environmental and genetic factors in congenital hydrocephalus. Eur J Epidemiol 1992 0.82
34 Familial cylindromatosis. Genet Couns 2004 0.82
35 Risk factors in congenital anal atresias. Ann Genet 1997 0.82
36 Landau-Kleffner syndrome: a pharmacologic study of five cases. Epilepsia 1991 0.82
37 Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns 2001 0.81
38 Maternal trace elements, vitamin B12, vitamin A, folic acid, and fetal malformations. Reprod Toxicol 1999 0.81
39 Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births. Ann Genet 1999 0.81
40 Multiple familial lipomatosis with polyneuropathy, an inherited dominant condition. Ann Genet 1996 0.81
41 Risk factors in limb reduction defects. Paediatr Perinat Epidemiol 1992 0.81
42 Intrachromosomal triplication for the distal part of chromosome 15q. Am J Med Genet A 2005 0.80
43 Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population. Hum Genet 1993 0.80
44 Are the recommendations on the prevention of neural tube defects working? Eur J Med Genet 2006 0.80
45 Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs. Am J Med Genet 1990 0.79
46 Evaluation of routine prenatal diagnosis by a registry of congenital anomalies. Prenat Diagn 1995 0.79
47 Congenital anomalies associated with congenital hypothyroidism. Ann Genet 1999 0.79
48 Recent trends in the prevalence of Down syndrome in north-eastern France. Ann Genet 1994 0.79
49 Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination. Ann Genet 2002 0.79
50 An XmnI RFLP at the subtelomeric Xp locus DXS31 [HGM7, LA, 1985]. Nucleic Acids Res 1986 0.79
51 [Congenital cerebellar hypoplasia with bone lesions]. Ann Pediatr (Paris) 1986 0.79
52 Associated malformations among infants with radial ray deficiency. Genet Couns 2013 0.78
53 Acetylator phenotype and congenital malformations. Eur J Clin Pharmacol 1989 0.78
54 A patient with 13q-syndrome with mild mental retardation and with growth retardation. Ann Genet 1998 0.78
55 Study of 224 cases of oligohydramnios and congenital malformations in a series of 225,669 consecutive births. Community Genet 1998 0.78
56 Twelve cases with hemihypertrophy: etiology and follow up. Genet Couns 1993 0.78
57 A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents. Genet Couns 1994 0.78
58 Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition? Ann Genet 1994 0.77
59 [Etiologic and epidemiologic aspects of neural tube defects]. Arch Fr Pediatr 1988 0.77
60 Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12. Am J Med Genet A 2004 0.77
61 Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome. Genet Couns 1993 0.77
62 Binder syndrome in a mother and her son. Genet Couns 1997 0.77
63 Study of 290 cases of polyhydramnios and congenital malformations in a series of 225,669 consecutive births. Community Genet 1999 0.76
64 No evidence for genomic imprinting in liver-born Down syndrome patients. Acta Genet Med Gemellol (Roma) 1996 0.76
65 Risk factors in internal urinary system malformations. Pediatr Nephrol 1990 0.75
66 Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Genet Couns 2002 0.75
67 Study of 156 cases of polyhydramnios and congenital malformations in a series of 118,265 consecutive births. Am J Obstet Gynecol 1991 0.75
68 Associated malformations in cases with neural tube defects. Genet Couns 2007 0.75
69 Reply to Newton Freire-Maia on inbreeding among medical geneticists II. Am J Med Genet 1995 0.75
70 Routine fetal echocardiography and detection of congenital heart disease. Lancet 1997 0.75
71 Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol. Ann Genet 2003 0.75
72 Gli 3 mutation in Pallister-Hall syndrome. Genet Couns 2002 0.75
73 [Fragile X chromosome in autism and psychotic disorders in children]. Arch Fr Pediatr 1992 0.75
74 Are some multiple congenital anomalies with mental retardation (MCA/MR) the clinical expression of rare autosomal fragile sites? Genet Couns 1991 0.75
75 Oligodontia, microcephaly and facial dysmorphia syndrome. Genet Couns 1998 0.75
76 [Congenital malformations in a series of 131,760 consecutive births during 10 years]. Arch Fr Pediatr 1991 0.75
77 Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination. Ann Genet 2000 0.75
78 [An epidemiological study of oligohydramnios associated with congenital malformations]. J Gynecol Obstet Biol Reprod (Paris) 1990 0.75
79 [Coffin-Siris syndrome with Lennox-Gastaut syndrome and hypertrophic cardiomyopathy]. Ann Pediatr (Paris) 1988 0.75
80 Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents. Genet Couns 1995 0.75
81 An unusual human mosaic for skin pigmentation. Genet Couns 2002 0.75
82 No evidence for genomic imprinting in liveborn Down syndrome patients. Ann Genet 1995 0.75
83 [Congenital malformations in a series of 66,068 consecutive births]. Arch Fr Pediatr 1987 0.75
84 Oto-palato-digital syndrome type II. Genet Couns 1994 0.75
85 [Maternal oligo-elements and fetal malformations]. Rev Fr Gynecol Obstet 1990 0.75
86 Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies. Prenat Diagn 1994 0.75
87 Sporadic case of dyssegmental dysplasia with antenatal presentation. Genet Couns 1998 0.75
88 [Anomalies in thyroid function in children with trisomy 21]. J Genet Hum 1989 0.75
89 HLA and Down syndrome (DS): parents at the origin of the nondisjunction share no more HLA-A and -B antigens with their DS child than controls. Genet Epidemiol 1988 0.75
90 Lymphedema combined with brachydactyly and tachycardia. Genet Couns 1998 0.75
91 Prenatal detection of internal urinary system's anomalies. A registry-based study. Eur J Epidemiol 1995 0.75
92 Familial distal arthrogryposis type I. Ann Genet 1996 0.75
93 Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters. Genet Couns 1992 0.75
94 [Wolfram's syndrome: apropos of a case]. Bull Soc Ophtalmol Fr 1988 0.75
95 Impact of routine fetal ultrasonographic screening on the prevalence of Down syndrome in non aged mothers. Ann Genet 1998 0.75
96 Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in a girl. Genet Couns 1998 0.75
97 Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? Genet Couns 2004 0.75
98 Wiedemann-Rautenstrauch syndrome. A case report and review of the literature. Genet Couns 1998 0.75
99 ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA. Genet Couns 2015 0.75
100 [The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?]. Arch Fr Pediatr 1993 0.75