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Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

Human reproduction (Oxford), 2010-10, Vol.25 (10), p.2637-2646

2010

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Molecular and clinical studies in 8 patients with Temple syndrome

Clinical genetics, 2018-06, Vol.93 (6), p.1179-1188

2018

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A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

American journal of human genetics, 2007-08, Vol.81 (2), p.388-396

2007

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Homozygous R127H mutation in the GJB2 gene in a boy with initial unilateral severe hearing loss

Klinische Padiatrie, 2013-12, Vol.225 (7), p.405

2013

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Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

Clinical genetics, 2006-10, Vol.70 (4), p.330-335

2006

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Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

Molecular syndromology, 2012-06, Vol.3 (1), p.6-13

2012

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Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin

Cytogenetic and genome research, 2012-04, Vol.136 (3), p.163-166

2012

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Human Ring Chromosomes - New Insights for their Clinical Significance

Balkan journal of medical genetics, 2013-06, Vol.16 (1), p.13-19

2013

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Language development impairment and trisomy 8 mosaicism

HNO, 2009-07, Vol.57 (7), p.685

2009

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Nonlinear feedback drives homeostatic plasticity in H2O2 stress response

eLife, 2017-04, Vol.6

2017

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10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Cytogenetic and genome research, 2009-01, Vol.124 (1), p.102-105

2009

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Speech impairment and the Smith-Magenis syndrome

HNO, 2007-08, Vol.55 (8), p.644-646

2007

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Journal of medical genetics, 2007-02, Vol.44 (2), p.131-135

2007

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Association between household cleaning product profiles evaluated by the Ménag’Score® index and asthma symptoms among women from the SEPAGES cohort

International archives of occupational and environmental health, 2022-10, Vol.95 (8), p.1719-1729

2022

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Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism? ‐a multicentre prospective study of hCG/rFSH treatment outcomes during adolescence

Clinical endocrinology (Oxford), 2017-01, Vol.86 (1), p.75-87

2017

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Use of personal care products during pregnancy in relation to urinary concentrations of select phenols: A longitudinal analysis from the SEPAGES feasibility study

International journal of hygiene and environmental health, 2020-06, Vol.227, p.113518-113518, Article 113518

2020

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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Human genetics, 2005-09, Vol.117 (5), p.485-493

2005

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Sprachentwicklungsstörung bei Mosaik-Trisomie 8

HNO, 2009-07, Vol.57 (7), p.685-689

2009

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Mutation p.Trp3X and mild phenotype of Becker muscular dystrophy

Neuropediatrics, 2013, Vol.44 (2)

2013

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Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study

The journal of clinical endocrinology and metabolism, 2012-02, Vol.97 (2), p.577-588

2012

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Personal exposure to PM 2.5 oxidative potential and its association to birth outcomes

Journal of exposure science & environmental epidemiology, 2023-05, Vol.33 (3), p.416

2023

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Erratum zu: Massive parallele Sequenzierung in der Diagnostik hereditärer BRCA1/2-Mutationen

Medizinische Genetik, 2014-11, Vol.26 (3), p.345-345

2014

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Massive parallele Sequenzierung in der Diagnostik hereditärer BRCA1-/-2-Mutationen

Medizinische Genetik, 2014-07, Vol.26 (2), p.255-263

2014

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Les colloques secrets de Claude Louis-Combet: Inédits, entretiens, articles

2020

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Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

Molecular and clinical studies in 8 patients with Temple syndrome

A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

Homozygous R127H mutation in the GJB2 gene in a boy with initial unilateral severe hearing loss

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin

Human Ring Chromosomes - New Insights for their Clinical Significance

Language development impairment and trisomy 8 mosaicism

Nonlinear feedback drives homeostatic plasticity in H2O2 stress response

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Speech impairment and the Smith-Magenis syndrome

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Association between household cleaning product profiles evaluated by the Ménag’Score® index and asthma symptoms among women from the SEPAGES cohort

Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism? ‐a multicentre prospective study of hCG/rFSH treatment outcomes during adolescence

Use of personal care products during pregnancy in relation to urinary concentrations of select phenols: A longitudinal analysis from the SEPAGES feasibility study

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Sprachentwicklungsstörung bei Mosaik-Trisomie 8

Mutation p.Trp3X and mild phenotype of Becker muscular dystrophy

Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study

Personal exposure to PM 2.5 oxidative potential and its association to birth outcomes

Erratum zu: Massive parallele Sequenzierung in der Diagnostik hereditärer BRCA1/2-Mutationen

Massive parallele Sequenzierung in der Diagnostik hereditärer BRCA1-/-2-Mutationen

Dating the Origin of the CCR5-Δ 32 AIDS-Resistance Allele by the Coalescence of Haplotypes

Les colloques secrets de Claude Louis-Combet: Inédits, entretiens, articles

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