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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Journal of medical genetics, 2006-01, Vol.43 (1), p.54-61

2006

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18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis

American journal of medical genetics. Part A, 2007-09, Vol.143A (18), p.2192-2195

2007

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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Journal of medical genetics, 2009-11, Vol.46 (11), p.752-758

2009

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Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis

Clinical genetics, 2001-01, Vol.59 (1), p.42-47

2001

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Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease

Annals of neurology, 1997, Vol.41 (1), p.104-108

1997

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Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Journal of medical genetics, 2001-02, Vol.38 (2), p.121-125

2001

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Neonatal screening for cystic fibrosis : result of pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

Human genetics, 1995-11, Vol.96 (5), p.542-548

1995

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Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

The Lancet (British edition), 2000-09, Vol.356 (9232), p.789-794

2000

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Acral dysostosis dyserythropoiesis syndrome

European journal of pediatrics, 1995-05, Vol.154 (5), p.384-388

1995

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Reliability of Rehabilitative Ultrasound Imaging of the Transversus Abdominis and Lumbar Multifidus Muscles

Archives of physical medicine and rehabilitation, 2009, Vol.90 (1), p.87-94

2009

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Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.690-693

2005

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Apert syndrome, an antenatal ultrasound detected case

Genetic counseling, 1994, Vol.5 (3), p.297

1994

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Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960

Human genetics, 2002-09, Vol.111 (3), p.247-254

2002

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"Isolated" hydrocephalus in families of spina bifida and anencephaly: a coincidence?

Neuropediatrics, 1989-11, Vol.20 (4), p.220

1989

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Prenatal Sonographic Patterns in Six Cases of Wolf-Hirschhorn (4p–) Syndrome

Fetal diagnosis and therapy, 2004-09, Vol.19 (5), p.421-430

2004

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Prenatal diagnosis of mosaic tetrasomy 8p

American journal of medical genetics, 2003-07, Vol.120A (1), p.44-48

2003

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Prenatal diagnosis of del(15)(q11q13)

Prenatal diagnosis, 1990-06, Vol.10 (6), p.405-411

1990

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Neonatal gastric perforation in twins

Pediatric surgery international, 1987-07, Vol.2 (4), p.255-256

1987

Volltextzugriff (PDF)

Neonatal ovarian cysts: twelve cysts with antenatal diagnosis

Pediatric surgery international, 1988-03, Vol.3 (2-3), p.158-164

1988

Volltextzugriff (PDF)

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12

Nature genetics, 1994-04, Vol.6 (4), p.405-408

1994

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DNA polymorphism analysis in families with recurrence of free trisomy 21

American journal of human genetics, 1992-11, Vol.51 (5), p.1015-1027

1992

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Molecular analysis of 53 fragile X families with the probe StB12.3

American journal of medical genetics, 1994-12, Vol.53 (4), p.370-373

1994

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Time and space clusters of the french-canadian MIV phenylketonuria mutation in France

American journal of human genetics, 1992-07, Vol.51 (1), p.191-196

1992

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Single daily dose of cimetidine for the treatment of symptomatic duodenal ulcer: results of a comparative two-centre clinical trial

Current therapeutic research, 1984, Vol.35 (5), p.777-782

1984

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Long segment and short segment familial Hirschprung's disease : variable clinical expression at the RET locus

Journal of medical genetics, 1994, Vol.31 (8), p.602-606

1994

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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis

Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Neonatal screening for cystic fibrosis : result of pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

Acral dysostosis dyserythropoiesis syndrome

Reliability of Rehabilitative Ultrasound Imaging of the Transversus Abdominis and Lumbar Multifidus Muscles

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

Apert syndrome, an antenatal ultrasound detected case

Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960

"Isolated" hydrocephalus in families of spina bifida and anencephaly: a coincidence?

Prenatal Sonographic Patterns in Six Cases of Wolf-Hirschhorn (4p–) Syndrome

Prenatal diagnosis of mosaic tetrasomy 8p

Prenatal diagnosis of del(15)(q11q13)

Neonatal gastric perforation in twins

Neonatal ovarian cysts: twelve cysts with antenatal diagnosis

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12

DNA polymorphism analysis in families with recurrence of free trisomy 21

Molecular analysis of 53 fragile X families with the probe StB12.3

Time and space clusters of the french-canadian MIV phenylketonuria mutation in France

Single daily dose of cimetidine for the treatment of symptomatic duodenal ulcer: results of a comparative two-centre clinical trial

Long segment and short segment familial Hirschprung's disease : variable clinical expression at the RET locus

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