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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Autor: F, Petit, F, Escande, A S, Jourdain, N, Porchet, J, Amiel, B, Doray, M A, Delrue, E, Flori, C A, Kim, S, Marlin, S P, Robertson, S, Manouvrier-Hanu, M, Holder-Espinasse

Publikováno v: Clinical genetics. 86(3)

Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5fc58c5524939811a580e4ed0cfe9203
https://pubmed.ncbi.nlm.nih.gov/24003905

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

Autor: F, Petit, A-S, Jourdain, J, Andrieux, G, Baujat, C, Baumann, C, Beneteau, A, David, L, Faivre, D, Gaillard, B, Gilbert-Dussardier, P-S, Jouk, C, Le Caignec, P, Loget, L, Pasquier, N, Porchet, M, Holder-Espinasse, S, Manouvrier-Hanu, F, Escande

Publikováno v: Clinical genetics. 85(5)

Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2b289490f49fe0d73667efc0c9550f68
https://pubmed.ncbi.nlm.nih.gov/23790188

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MUC4 (mucin 4, cell surface associated)

Autor: N Porchet, Seuningen I Van, Surinder K. Batra, Pankaj Chaturvedi, Ajay P. Singh, Nicolas Moniaux

Publikováno v: Atlas of Genetics and Cytogenetics in Oncology and Haematology.

Review on MUC4 (mucin 4, cell surface associated), with data on DNA, on the protein encoded, and where the gene is implicated.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8625d85cd5f4fc0d209dc6c68c082860
https://doi.org/10.4267/2042/38441

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Human respiratory mucins

Autor: G Lamblin, JP Aubert, JM Perini, A Klein, N Porchet, P Degand, P Roussel

Publikováno v: European Respiratory Journal. 5:247-256

Human respiratory mucins are secreted by goblet cells and mucous glands of the respiratory mucosa. They consist of a broad family of complex glycoproteins with different peptides, or apomucins, corresponding to several genes located on at least three

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ae4a1b380a078c20a9a0f873c7d74cb9
https://doi.org/10.1183/09031936.93.05020247

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[Calcium sensing receptor: physiology and pathology]

Autor: F, Faivre-Defrance, S, Marcelli-Tourvieille, M-F, Odou, N, Porchet, J-L, Wemeau, M-C, Vantyghem

Publikováno v: Annales d'endocrinologie. 67(1)

Calcium is a major ion in human metabolism and its level is highly controlled. This regulation is performed via the Calcium Sensing Receptor, a discovery which ten years ago led to the explanation of a number of clinical disorders. The syndromes caus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e33b568d481130dee28a181bfdbe42ef
https://pubmed.ncbi.nlm.nih.gov/16596058

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[Genetically-driven or supposed genetic-related insulinomas in adults: validation of the surgical strategy proposed by the A.F.C.E./G.E.N.E.M]

Autor: C, Proye, G, Stalnikiewicz, J L, Wemeau, N, Porchet, M, D'Herbomez, V, Maunoury, C, Bauters

Publikováno v: Annales d'endocrinologie. 65(2)

Between 1971 and 2002, 80 patients underwent surgery for insulinoma at the Department of General and Endocrine Surgery of the Lille University Hospitals. The present report deals with 13 patients with proven multiple endocrine neoplasia type I (MEN I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::231504cb7fb047606b064524b8681573
https://pubmed.ncbi.nlm.nih.gov/15247875

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[Paragangliomas: clinical and secretory profile. Result of 39 cases]

Autor: A, Lamblin, P, Pigny, G, Tex, N, Rouaix-Emery, N, Porchet, E, Leteurtre, D, Huglo, A, Mondragon-Sanchez, F, Pattou, C, Cardot-Bauters, J-L, Wemeau, C, Proye

Publikováno v: Annales de chirurgie. 130(3)

To define a clinical and secretory profile of paragangliomas extra-adrenal chromaffin tumors.From 1971 throughout 2002, 39 paragangliomas have been observed in 38 patients (22 male, 16 female, average age 41,2 years).Four were located above the diaph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::68e1ee971d78e23e4f1add9ed113d934
https://pubmed.ncbi.nlm.nih.gov/15784218

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[Multiple endocrine neoplasias. Recent advances in clinical and genetic diagnosis]

Autor: C, Bauters, L, Leclerc, J-L, Wémeau, C, Proye, P, Pigny, N, Porchet

Publikováno v: La Revue de medecine interne. 24(11)

Multiple endocrine neoplasias (MEN) are autosomal dominant inherited syndromes characterized by the association of different glandular lesions in several members of the same kindred. The main clinical features of MEN 1 include primary hyperparathyroi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b976bde3c26d6e048895bde8acf63e8f
https://pubmed.ncbi.nlm.nih.gov/14604749

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