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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

Human mutation, 2007-08, Vol.28 (8), p.790-796

2007

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Alternatively Spliced Forms in the Cytoplasmic Domain of the Human Growth Hormone (GH) Receptor Regulate Its Ability to Generate a Soluble GH-Binding Protein

Proceedings of the National Academy of Sciences - PNAS, 1996-10, Vol.93 (20), p.10723-10728

1996

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A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization

The EMBO journal, 1994-03, Vol.13 (6), p.1386-1395

1994

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Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

Journal of medical genetics, 2004-11, Vol.41 (11), p.e118-e118

2004

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B62 THE BIOLOGY OF SCARRING. WHERE ARE WE NOW: Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung Cancer

American journal of respiratory and critical care medicine, 2016-01, Vol.193, p.1

2016

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A94 NEW INSIGHTS IN IPF: Contribution Of Mutations In Genes Encoding Proteins Of The Surfactant Metabolism To Idiopathic Interstitial Pneumonia And Idiopathic Pulmonary Fibrosis In A Cohort Of 265 Families

American journal of respiratory and critical care medicine, 2016-01, Vol.193, p.1

2016

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Contribution Of Mutations In Genes Encoding Proteins Of The Surfactant Metabolism To Idiopathic Interstitial Pneumonia And Idiopathic Pulmonary Fibrosis In A Cohort Of 265 Families

American journal of respiratory and critical care medicine, 2016, Vol.193

2016

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L’analyse quantitative du mouvement ciliaire permet d’identifier le phénotype ultra-structural des dyskinésies ciliaires primitives

Revue des maladies respiratoires, 2017-01, Vol.34, p.A34-A34

2017

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Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene

The journal of clinical endocrinology and metabolism, 1998-02, Vol.83 (2), p.432-436

1998

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Human Prop-1: cloning, mapping, genomic structure: Mutations in familial combined pituitary hormone deficiency

FEBS letters, 1998-10, Vol.437 (3), p.216-220

1998

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Phenotype: Genotype relationships in growth hormone insensitivity syndrome

The journal of clinical endocrinology and metabolism, 1997-11, Vol.82 (11), p.3529-3535

1997

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OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A265-A265, Article A265

2013

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SP-A restaure l’oligomérisation et la sécrétion de mutants de SFTPA1 et SFTPA2

Revue des maladies respiratoires actualités, 2024-01, Vol.16 (1), p.40

2024

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Mutation hypomorphe de SFTPB associée à des fibroses pulmonaires viables à l’âge adulte

Revue des maladies respiratoires actualités, 2024-01, Vol.16 (1), p.228

2024

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Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

American journal of human genetics, 2001-11, Vol.69 (5), p.961-968

2001

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Fond génétique partagé entre la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde et la fibrose pulmonaire idiopathique

Revue du rhumatisme (Ed. française : 1993), 2016-11, Vol.83, p.A91-A92

2016

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Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung ă Cancer

American journal of respiratory and critical care medicine, 2016, Vol.193

2016

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Heterozygous mutation in the WSXWS equivalent motif of the growth hormone receptor in a child with poor response to growth hormone therapy

Growth hormone & IGF research, 1998-06, Vol.8 (3), p.211-216

1998

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Molecular basis of familial growth hormone-resistant syndromes

Journal of endocrinological investigation (Testo stampato), 1998, Vol.21 (8), p.7-17

1998

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The human dynein intermediate chain 2 gene (DNAI2) : cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

Human genetics, 2000-12, Vol.107 (6), p.642-649

2000

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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Cilia, 2012-11, Vol.1 (S1), p.P91-P91, Article P91

2012

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Nine novel growth hormone receptor gene mutations in patients with Laron syndrome

The journal of clinical endocrinology and metabolism, 1997-02, Vol.82 (2), p.435-437

1997

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Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

Human molecular genetics, 2001-07, Vol.10 (14), p.1503-1510

2001

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Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome

Human molecular genetics, 1993-04, Vol.2 (4), p.355-359

1993

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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

Alternatively Spliced Forms in the Cytoplasmic Domain of the Human Growth Hormone (GH) Receptor Regulate Its Ability to Generate a Soluble GH-Binding Protein

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

B62 THE BIOLOGY OF SCARRING. WHERE ARE WE NOW: Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung Cancer

A94 NEW INSIGHTS IN IPF: Contribution Of Mutations In Genes Encoding Proteins Of The Surfactant Metabolism To Idiopathic Interstitial Pneumonia And Idiopathic Pulmonary Fibrosis In A Cohort Of 265 Families

Contribution Of Mutations In Genes Encoding Proteins Of The Surfactant Metabolism To Idiopathic Interstitial Pneumonia And Idiopathic Pulmonary Fibrosis In A Cohort Of 265 Families

L’analyse quantitative du mouvement ciliaire permet d’identifier le phénotype ultra-structural des dyskinésies ciliaires primitives

Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene

Human Prop-1: cloning, mapping, genomic structure: Mutations in familial combined pituitary hormone deficiency

Fond génétique partagé entre la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde et la fibrose pulmonaire idiopathique

Phenotype: Genotype relationships in growth hormone insensitivity syndrome

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

SP-A restaure l’oligomérisation et la sécrétion de mutants de SFTPA1 et SFTPA2

Mutation hypomorphe de SFTPB associée à des fibroses pulmonaires viables à l’âge adulte

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Fond génétique partagé entre la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde et la fibrose pulmonaire idiopathique

Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung ă Cancer

Heterozygous mutation in the WSXWS equivalent motif of the growth hormone receptor in a child with poor response to growth hormone therapy

Molecular basis of familial growth hormone-resistant syndromes

The human dynein intermediate chain 2 gene (DNAI2) : cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome

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