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Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

American journal of human genetics, 2006-06, Vol.78 (6), p.1066-1074

2006

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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1252-1261

2015

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Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.111-122

2015

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Functional disomy of the Xq28 chromosome region

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.579-585

2005

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Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

Pediatrics (Evanston), 2008-08, Vol.122 (2), p.e376-e382

2008

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Reply to Salviati et al

American journal of human genetics, 2006-09, Vol.79 (3), p.596-597

2006

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17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

Cytogenetic and genome research, 2014-01, Vol.144 (3), p.178-182

2014

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Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

The Journal of pediatrics, 2001-07, Vol.139 (1), p.111-116

2001

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Werner mesomelic dysplasia with Hirschsprung disease

American journal of medical genetics, 2003-12, Vol.123A (2), p.186-189

2003

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Ebstein anomaly associated with rearrangements of chromosomal region 11q

American journal of medical genetics, 1998-11, Vol.80 (2), p.157-159

1998

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Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

European journal of human genetics : EJHG, 2002-11, Vol.10 (11), p.699-706

2002

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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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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

European journal of human genetics : EJHG, 2001-05, Vol.9 (5), p.319-327

2001

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Characterization of a human ovarian adenocarcinoma line, IGROV1, in tissue culture and in nude mice

Cancer research (Chicago, Ill.), 1985-10, Vol.45 (10), p.4970-4979

1985

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.844-851

2016

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Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

Investigative ophthalmology & visual science, 2010-09, Vol.51 (9), p.4380-4386

2010

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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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Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

Clinical dysmorphology, 2001-10, Vol.10 (4), p.253-255

2001

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β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

Journal of medical genetics, 2001-09, Vol.38 (9), p.586-590

2001

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Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

American journal of medical genetics. Part A, 2005-08, Vol.137A (2), p.190-198

2005

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Homocysteine and the methotrexate toxicity in trisomy 21

Cancer chemotherapy and pharmacology, 1991-01, Vol.27 (4), p.331-332

1991

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[beta]1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

Journal of medical genetics, 2001-09, Vol.38 (9), p.586

2001

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Pure partial trisomy of the short arm of chromosome 5

Human genetics, 1989-06, Vol.82 (3), p.296-298

1989

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Werner mesomelic dysplasia with Hirschsprung disease

American Journal of Medical Genetics Part A, 2003, Vol.123A (2), p.186-189

2003

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Microphthalmia with linear skin defects (MLS) syndrome : Clinical, cytogenetic, and molecular characterization of 11 cases

American journal of medical genetics, 2005, Vol.137A (2), p.190-198

2005

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Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

Functional disomy of the Xq28 chromosome region

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

Reply to Salviati et al

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

Werner mesomelic dysplasia with Hirschsprung disease

Ebstein anomaly associated with rearrangements of chromosomal region 11q

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

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

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Characterization of a human ovarian adenocarcinoma line, IGROV1, in tissue culture and in nude mice

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

DNA polymorphism analysis in families with recurrence of free trisomy 21

Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

Homocysteine and the methotrexate toxicity in trisomy 21

[beta]1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

Pure partial trisomy of the short arm of chromosome 5

Werner mesomelic dysplasia with Hirschsprung disease

Microphthalmia with linear skin defects (MLS) syndrome : Clinical, cytogenetic, and molecular characterization of 11 cases

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