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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Translational psychiatry, 2011-11, Vol.1 (11), p.e55-e55

2011

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Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

Clinical genetics, 2012-02, Vol.81 (2), p.128-141

2012

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Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

Clinical genetics, 2017-03, Vol.91 (3), p.470-475

2017

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Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

Human molecular genetics, 2001-07, Vol.10 (14), p.1465-1473

2001

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A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

Clinical genetics, 2015-07, Vol.88 (1), p.E1-E4

2015

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Polymicrogyria with dysmorphic basal ganglia? Think tubulin

Clinical genetics, 2014-02, Vol.85 (2), p.178-183

2014

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FSGS-associated α-actinin-4 (K256E) impairs cytoskeletal dynamics in podocytes

Kidney international, 2006-09, Vol.70 (6), p.1054-1061

2006

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Refining the phenotype associated with biallelic DNAJC21 mutations

Clinical genetics, 2018-08, Vol.94 (2), p.252-258

2018

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The developmental program of the hypothalamus and its disorders

Clinical genetics, 2001-10, Vol.60 (4), p.255-263

Michaud, JL

2001

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Closure of the bronchial stump by manual suture and incidence of bronchopleural fistula in a series of 209 pneumonectomies for lung cancer

European journal of cardio-thoracic surgery, 1999-10, Vol.16 (4), p.418-423

1999

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G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Science (American Association for the Advancement of Science), 2004-03, Vol.303 (5666), p.2033-2036

2004

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Early and late outcome after elective cardiac surgery in patients with cirrhosis

The Annals of thoracic surgery, 1999-05, Vol.67 (5), p.1334-1338

1999

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MYOD1 involvement in myopathy

European journal of neurology, 2018-12, Vol.25 (12), p.e123-e124

2018

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Intérêt de la tomothérapie après pleuro-pneumonectomie extrapleurale dans le mésothéliome pleural malin : premiers résultats cliniques

Revue des maladies respiratoires, 2011-05, Vol.28 (5), p.609-617

2011

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Fat chance: genetic syndromes with obesity

Clinical genetics, 2004-08, Vol.66 (2), p.83-93

2004

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Isolated mitral valve replacement with St Jude Medical prosthesis: Long-term results : A follow-up of 19 years

Circulation (New York, N.Y.), 2001-03, Vol.103 (11), p.1542-1545

2001

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Aggressive surgical management in localized pulmonary mycotic and nonmycotic infections for neutropenic patients with acute leukemia: Report of eighteen cases

The Journal of thoracic and cardiovascular surgery, 1998, Vol.115 (1), p.63-69

1998

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3. Quel bilan pré-thérapeutique faut-il proposer à un patient porteur d’un mésothéliome pleural malin (MPM)?

Revue des maladies respiratoires, 2006, Vol.23 (4), p.45-50

2006

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Parent-child exome sequencing identifiesa de novo truncating mutation in TCF4 in non-syndromic intellectual disability

Clinical genetics, 2013-02, Vol.83 (2), p.198-200

2013

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Association between injury indices and outcome after severe traumatic brain injury in children

Archives of physical medicine and rehabilitation, 1996-02, Vol.77 (2), p.125-132

1996

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Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1

Genes & development, 1998-10, Vol.12 (20), p.3264-3275

1998

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Members of the bHLH-PAS family regulate Shh transcription in forebrain regions of the mouse CNS

Development (Cambridge), 2000-11, Vol.127 (21), p.4701-4709

2000

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Resection of bronchopulmonary cancers invading the left atrium--benefit of cardiopulmonary bypass

The Thoracic and cardiovascular surgeon, 2003-06, Vol.51 (3), p.159-161

2003

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Natural history of Alström syndrome in early childhood: Onset with dilated cardiomyopathy

The Journal of pediatrics, 1996-02, Vol.128 (2), p.225-229

1996

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Parent―child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability

Clinical genetics, 2013-02, Vol.83 (2), p.198-200

2013

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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

Polymicrogyria with dysmorphic basal ganglia? Think tubulin

FSGS-associated α-actinin-4 (K256E) impairs cytoskeletal dynamics in podocytes

Refining the phenotype associated with biallelic DNAJC21 mutations

The developmental program of the hypothalamus and its disorders

Closure of the bronchial stump by manual suture and incidence of bronchopleural fistula in a series of 209 pneumonectomies for lung cancer

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Early and late outcome after elective cardiac surgery in patients with cirrhosis

MYOD1 involvement in myopathy

Intérêt de la tomothérapie après pleuro-pneumonectomie extrapleurale dans le mésothéliome pleural malin : premiers résultats cliniques

Fat chance: genetic syndromes with obesity

Isolated mitral valve replacement with St Jude Medical prosthesis: Long-term results : A follow-up of 19 years

Aggressive surgical management in localized pulmonary mycotic and nonmycotic infections for neutropenic patients with acute leukemia: Report of eighteen cases

3. Quel bilan pré-thérapeutique faut-il proposer à un patient porteur d’un mésothéliome pleural malin (MPM)?

Parent-child exome sequencing identifiesa de novo truncating mutation in TCF4 in non-syndromic intellectual disability

Association between injury indices and outcome after severe traumatic brain injury in children

Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1

Members of the bHLH-PAS family regulate Shh transcription in forebrain regions of the mouse CNS

Resection of bronchopulmonary cancers invading the left atrium--benefit of cardiopulmonary bypass

Natural history of Alström syndrome in early childhood: Onset with dilated cardiomyopathy

Parent―child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability

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