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Un évènement génétique complexe très rare à propos du gène CDC73 / HRPT2 en illustration de la médecine personnalisée

Annales d'endocrinologie, 2016-09, Vol.77 (4), p.280-281

2016

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Grandes délétions germinales du gene CDC73 (HRPT2) fréquentes dans une cohorte nationale française de patients atteints d’hyperparathyroïdie primaire : données du groupe d’étude des tumeurs endocrines (GTE)

Annales d'endocrinologie, 2012-09, Vol.73 (4), p.273-273

2012

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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Clinical genetics, 2014-09, Vol.86 (3), p.246-251

2014

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Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours

British journal of cancer, 2013-05, Vol.108 (10), p.2079-2087

2013

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Tumour growth and resistance to gemcitabine of pancreatic cancer cells are decreased by AP-2α overexpression

British journal of cancer, 2009-08, Vol.101 (4), p.637-644

2009

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Le récepteur sensible au calcium : physiologie et pathologie

Annales d'endocrinologie, 2006-03, Vol.67 (1), p.45-53

2006

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Droits humains et éducation sexuelle: Contexte, perceptions et pratiques

2021

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Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

Clinical genetics, 2014-05, Vol.85 (5), p.464-469

2014

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Creatine biosynthesis and transport in health and disease

Biochimie, 2015-12, Vol.119, p.146-165

2015

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Mucin gene expression in human embryonic and fetal intestine

Gut, 1998-10, Vol.43 (4), p.519-524

1998

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Mucin gene expression in intestinal epithelial cells in Crohn's disease

Gut, 2001-10, Vol.49 (4), p.544-551

2001

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Diagnosis of alpha-1 antitrypsin deficiency: Modalities, indications and diagnosis strategy

Revue des maladies respiratoires, 2014-10, Vol.31 (8), p.729-745

2014

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Expression of human mucin genes in respiratory, digestive, and reproductive tracts ascertained by in situ hybridization

The journal of histochemistry and cytochemistry, 1993-10, Vol.41 (10), p.1479-1485

1993

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WITHDRAWN: Diagnostic du déficit en alpha-1-antitrypsine : les moyens, les indications et la stratégie diagnostique

Revue des maladies respiratoires, 2014-02

2014

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Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. II. Duodenum and Liver, Gallbladder, and Pancreas

The journal of histochemistry and cytochemistry, 2000-12, Vol.48 (12), p.1667-1676

2000

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Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. I. Stomach: A Relationship to Gastric Carcinoma

The journal of histochemistry and cytochemistry, 2000-12, Vol.48 (12), p.1657-1665

2000

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Characterization of the human mucin gene MUC5AC: a consensus cysteine-rich domain for 11p15 mucin genes?

Biochemical journal, 1995-01, Vol.305 ( Pt 1) (1), p.211-219

1995

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Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes

Journal of medical genetics, 2003-06, Vol.40 (6), p.e75-75

2003

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Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.44-50

2016

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Human mucin gene MUC5AC: organization of its 5'-region and central repetitive region

Biochemical journal, 2001-09, Vol.358 (Pt 3), p.763-772

2001

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Molecular cloning and chromosomal localization of a novel human tracheo-bronchial mucin cDNA containing tandemly repeated sequences of 48 base pairs

Biochemical and biophysical research communications, 1991-03, Vol.175 (2), p.414-422

1991

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Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

Journal of medical genetics, 2004-06, Vol.41 (6), p.e78-e78

2004

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Expression of human mucin genes in normal kidney and renal cell carcinoma

Histopathology, 2002-05, Vol.40 (5), p.450-457

2002

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Aberrant expression of a human mucin gene (MUC5AC) in rectosigmoid villous adenoma

Gastroenterology (New York, N.Y. 1943), 1996-01, Vol.110 (1), p.84-91

1996

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Polymorphism of Human Mucin Genes in Chest Disease . Possible Significance of MUC2

American journal of respiratory cell and molecular biology, 2000-11, Vol.23 (5), p.678-686

2000

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Un évènement génétique complexe très rare à propos du gène CDC73 / HRPT2 en illustration de la médecine personnalisée

Grandes délétions germinales du gene CDC73 (HRPT2) fréquentes dans une cohorte nationale française de patients atteints d’hyperparathyroïdie primaire : données du groupe d’étude des tumeurs endocrines (GTE)

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours

Tumour growth and resistance to gemcitabine of pancreatic cancer cells are decreased by AP-2α overexpression

Le récepteur sensible au calcium : physiologie et pathologie

Droits humains et éducation sexuelle: Contexte, perceptions et pratiques

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

Creatine biosynthesis and transport in health and disease

Mucin gene expression in human embryonic and fetal intestine

Mucin gene expression in intestinal epithelial cells in Crohn's disease

Diagnosis of alpha-1 antitrypsin deficiency: Modalities, indications and diagnosis strategy

Expression of human mucin genes in respiratory, digestive, and reproductive tracts ascertained by in situ hybridization

WITHDRAWN: Diagnostic du déficit en alpha-1-antitrypsine : les moyens, les indications et la stratégie diagnostique

Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. II. Duodenum and Liver, Gallbladder, and Pancreas

Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. I. Stomach: A Relationship to Gastric Carcinoma

Characterization of the human mucin gene MUC5AC: a consensus cysteine-rich domain for 11p15 mucin genes?

Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Human mucin gene MUC5AC: organization of its 5'-region and central repetitive region

Molecular cloning and chromosomal localization of a novel human tracheo-bronchial mucin cDNA containing tandemly repeated sequences of 48 base pairs

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

Expression of human mucin genes in normal kidney and renal cell carcinoma

Aberrant expression of a human mucin gene (MUC5AC) in rectosigmoid villous adenoma

Polymorphism of Human Mucin Genes in Chest Disease . Possible Significance of MUC2

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