Výsledky vyhledávání - "M.M.M. van Reen"

A Limited Repertoire of Mutations of the Luteinizing Hormone (LH) Receptor Gene in Familial and Sporadic Patients with Male LH-Independent Precocious Puberty1

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 84:1136-1140

Herein, we report mutation analysis of the LH receptor gene in 17 males with LH-independent precocious puberty, of which 8 were familial and 9 had a negative family history. A total of 7 different mutations (all previously reported) were detected in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f2bd8db70a38d164714758a0e02518bc
https://doi.org/10.1210/jcem.84.3.5515

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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6

Autor: Andra Ion, Naoya Kenmochi, Edwin C. M. Mariman, David C. Page, Michael A. Patton, H.G. Brunner, Andrew H. Crosby, Stephen Jeffery, Kate Montgomery, I. van der Burgt, Raju Kucherlapati, Christiane Fenske, M.M.M. van Reen, Hubertus P. H. Kremer

Publikováno v: Journal of Medical Genetics, 37, pp. 884-886
Journal of Medical Genetics, 37, 884-886

Editor—Noonan syndrome (NS) is an autosomal dominant developmental disorder in which the cardinal features include short stature, typical facies with hypertelorism, ptosis, downward slanting palpebral fissures, and low set, posteriorly rotated ears

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a4d47d45648f840cad534a17e3f7b1a
https://hdl.handle.net/2066/173000

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Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10

Autor: George W. Padberg, Harriëtte T.F.M. Verzijl, H.G. Brunner, Victor L. Schuster, J.H.L.M. van Bokhoven, G.H. Wichers, A. van der Zwaag, Hubertus P. H. Kremer, D. Beltran Valero de Bernabe, M.M.M. van Reen

Publikováno v: Journal of medical genetics. 39(6)

Mobius syndrome (MBS, MIM 157900) is a rare congenital disorder characterised by paralysis of the facial nerve. This paralysis may be complete or partial and unilateral or bilateral. Other cranial nerves are often implicated, most frequently the abdu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be691b854f6ba47438b8b379369ff86
https://pubmed.ncbi.nlm.nih.gov/12070262

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Localization of the gene for Cowden disease to chromosome 10q22-23

Publikováno v: Nature Genetics, 13, 1, pp. 114-116
Nature Genetics, 13, 114-116
Nature Genetics, 13, pp. 114-116
Scopus-Elsevier

Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its clinical features include a wide array of abnormalities but the main characteristics are ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de4284c0f1bb1f70eff757c5526ce7f
https://hdl.handle.net/2066/24259

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Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family

Autor: Hannie Kremer, B. Van Den Helm, B.C.J. Hamel, George W. Padberg, Rune R. Frants, M.M.M. van Reen, L.P. Kuyt, Cees Jansen, J.A.M. Leunissen, E.C.M. Mariman

Publikováno v: Human Molecular Genetics, 5, 9, pp. 1367-1371
Human Molecular Genetics, 5, 1367-1371

Mobius syndrome (MIM no. 157900) consists of a congenital paresis or paralysis of the VIIth cranial nerve, frequently accompanied by paralysis of other cranial nerves, orofacial and limb malformations, defects of the musculoskeletal system and mental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de8646ea784bf065021a9128de3fabe9
https://hdl.handle.net/2066/166853

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Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

Autor: Axel P. N. Themmen, J. B. Fridman, Robert Kraaij, M.M.M. van Reen, Sergio P. A. Toledo, E. Milgrom, Han G. Brunner, Hans-Hilger Ropers, C Y Hayashida, M. Post, E.C.M. Mariman, J.M.J. Kremer

Publikováno v: Nature Genetics, 9, pp. 160-164
Nature Genetics, 9, 160-164
Nature Genetics, 9, 2, pp. 160-164

Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. We have studied two Leydig cell hypoplasia patients (siblings born to consanguineous parents), and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fd9804ab510575eb19b4d4885ca88db
https://hdl.handle.net/2066/189152

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