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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

Clinical genetics, 2017-06, Vol.91 (6), p.908-912

2017

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Kinetochore KMN network gene CASC5 mutated in primary microcephaly

Human molecular genetics, 2012-12, Vol.21 (24), p.5306-5317

2012

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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Human mutation, 2010-05, Vol.31 (5), p.E1332-E1347

2010

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Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13

Genetic counseling, 2013-01, Vol.24 (2), p.193

2013

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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Molecular syndromology, 2010-01, Vol.1 (2), p.67-74

2010

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Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome

Genetic counseling, 2009, Vol.20 (1), p.9

2009

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Precocious puberty associated with partial trisomy 18q and monosomy 11q

Genetic counseling, 2007-01, Vol.18 (2), p.201

2007

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Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis

Journal of tropical pediatrics (1980), 2008-10, Vol.54 (5), p.350-352

2008

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Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22

Genetic counseling, 2000, Vol.11 (2), p.181

2000

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Molecular Analysis in Two Siblings African Patients with Severe Form of Hunter Syndrome: Identification of a Novel (p.Y54X) Nonsense Mutation

Journal of tropical pediatrics (1980), 2007-12, Vol.53 (6), p.434-437

2007

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Need for search for cryptic translocation in parents with several children affected with MCA: report of a cryptic translocation (10;14) detected by FISH

Genetic counseling, 1998, Vol.9 (2), p.97

1998

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Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome

Human genetics, 1991-09, Vol.87 (5), p.587-591

1991

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Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?

Genetic counseling, 1992, Vol.3 (2), p.101

1992

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Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient

Revue médicale de Liège, 2007-03, Vol.62 (3), p.155

2007

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A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects?: A brief clinical report

Ophthalmic paediatrics and genetics, 1991, Vol.12 (4), p.183-186

1991

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Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature

Clinical genetics, 1988-05, Vol.33 (5), p.386-389

1988

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Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery

Prenatal diagnosis, 1989-05, Vol.9 (5), p.373-375

1989

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Lethal malformation syndrome in three siblings. A variable expression of the same entity?

Genetic counseling, 1992, Vol.3 (2), p.121

1992

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Syndrome typique de l'hydantoïne chez un enfant de mère non épileptique

La Presse médicale (1983), 1986-10, Vol.15 (36)

1986

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Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities

American journal of medical genetics, 1995-04, Vol.56 (3), p.276-280

1995

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Dandy-Walker malformation with postaxial polydactyly: A new syndrome?

American journal of medical genetics, 1989-08, Vol.33 (4), p.483-484

1989

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An Open, Multicentre, Comparative Study of the Efficacy and Safety of Azithromycin and Co-Amoxiclav in the Treatment of Upper and Lower Respiratory Tract Infections in Children

Journal of international medical research, 1997-09, Vol.25 (5), p.285-295

1997

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Problems in genetics. The H-Y antigen: its role in sexual differentiation

Revue médicale de Liège, 1983-12, Vol.38 (24), p.937

1983

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Typical hydantoin syndrome in a child of a non-epileptic mother

La Presse médicale (1983), 1986-10, Vol.15 (36), p.1828

1986

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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome

Precocious puberty associated with partial trisomy 18q and monosomy 11q

Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis

Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22

Molecular Analysis in Two Siblings African Patients with Severe Form of Hunter Syndrome: Identification of a Novel (p.Y54X) Nonsense Mutation

Need for search for cryptic translocation in parents with several children affected with MCA: report of a cryptic translocation (10;14) detected by FISH

Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome

Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?

Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient

A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects?: A brief clinical report

Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature

Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery

Lethal malformation syndrome in three siblings. A variable expression of the same entity?

Syndrome typique de l'hydantoïne chez un enfant de mère non épileptique

Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities

Dandy-Walker malformation with postaxial polydactyly: A new syndrome?

An Open, Multicentre, Comparative Study of the Efficacy and Safety of Azithromycin and Co-Amoxiclav in the Treatment of Upper and Lower Respiratory Tract Infections in Children

Problems in genetics. The H-Y antigen: its role in sexual differentiation

Typical hydantoin syndrome in a child of a non-epileptic mother

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