Search Results - "van Reen, M"

Localization of the gene for Cowden disease to chromosome 10q22-23 by Nelen, M.R, Padberg, G.W, Peeters, E.A.J, Lin, A.Y, Helm, B. van den, Frants, R.R, Goulon, V, Goldstein, A.M, Reen, M.M.M van, Eastern, D.F, Eeles, R.A, Hodgson, S, Mulvihill, J.J, Murday, V.A, Tucker, M.A, Mariman, E.C.M, Starink, T.M, Ponder, B.A.J, Ropers, H.H, Kremer, H, Longy, M, Eng, C

“…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…”
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An exact general analysis of ligand binding displacement and saturation curves by van Zoelen, E. J. J, Kramer, R. H, van Reen, M. M. M, Veerkamp, J. H, Ross, H. A

“…Quantitative analysis of a ligand-protein interaction relates binding to the free concentration of ligand molecules in solution. A theoretical analysis is…”
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A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male lh-independent precocious puberty by KREMERT, H, MARTENS, J. W. M, POTAU, N, BUCKLER, J. M. H, JANSEN, M, PARKS, J. S, LATIF, H. A, MOLL, G. W, EPPING, W, SAGGESE, G, MARIMAN, E. C. M, THEMMEN, A. P. N, VAN REEN, M, BRUNNER, H. G, VERHOEF-POST, M, WIT, J. M, OTTEN, B. J, DROP, S. L. S, DE WAAL, H. A. D.-V, POMBO-ARIAS, M, DE LUCA, F

“…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…”
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Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10 by van der Zwaag, B, Verzijl, H T F M, Beltran-Valero de Bernabe, D, Schuster, V L, van Bokhoven, H, Kremer, H, van Reen, M, Wichers, G H, Brunner, H G, Padberg, G W

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A Limited Repertoire of Mutations of the Luteinizing Hormone (LH) Receptor Gene in Familial and Sporadic Patients with Male LH-Independent Precocious Puberty1 by Kremer, H, Martens, J. W. M, van Reen, M, Verhoef-Post, M, Wit, J. M, Otten, B. J, Drop, S. L. S, Delemarre-van de Waal, H. A, Pombo-Arias, M, De Luca, F, Potau, N, Buckler, J. M. H, Jansen, M, Parks, J. S, Latif, H. A, Moll, G. W, Epping, W, Saggese, G, Mariman, E. C. M, Themmen, A. P. N, Brunner, H. G

“…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…”
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Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene by Milgrom, Edwin, Ropers, Hans-Hilger, Themmen, Axel P.N, Brunner, Han G, Toledo, Sergio P.A, Fridman, Julia B, Hayashida, Cesar Y, Mariman, Edwin, Kraaij, Robert, Post, Miriam, Kremer, Hannie, Reen, Margo van

“…Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. We have…”
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Mapping a gene for Noonan syndrome to the long arm of chromosome 12 by Patton, Michael A, van der Burgt, Ineke, van Reen, Margo, Hol, Frans, Mariman, Edwin, Elsawi, Madiha M, Jamieson, C. Ruth, Brady, Angela F, Jeffery, Steve

“…Noonan syndrome is characterized by typical facies, short stature and congenital cardiac defects. Approximately half of all cases are sporadic, but autosomal…”
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Localization of a Gene for Möbius Syndrome to Chromosome 3q by Linkage Analysis in a Dutch Family by Kremer, Hannie, Kuyt, Lambertus P., van den Helm, Bellinda, van Reen, Margo, Leunissen, Jack A. M., Hamel, Ben C. J., Jansen, Cees, Mariman, Edwin C. M., Frants, Rune R., Padberg, George W.

“…Möbius syndrome (MIM no. 157900) consists of a congenital pares is or paralysis of the viith ci anial nerve, frequently accompanied by paralysis of other…”
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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6 by Ion, A, Crosby, A H, Kremer, H, Kenmochi, N, Van Reen, M, Fenske, C, Van Der Burgt, I, Brunner, H G, Montgomery, K, Kucherlapati, R S, Patton, M A, Page, C, Mariman, E, Jeffery, S

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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6 by ION, A, CROSBY, A H, KREMER, H, KENMOCHI, N, VAN REEN, M, FENSKE, C, VAN DER BURGT, I, BRUNNER, H G, MONTGOMERY, K, KUCHERLAPATI, R S, PATTON, M A, PAGE, D C, MARIMAN, E, JEFFERY, S

“…[...]there is a notable cardiac involvement seen in these patients, principally pulmonary valve stenosis and hypertrophic obstructive cardiomyopathy. 1 2 The…”
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Further Delineation of the Critical Region for Noonan Syndrome on the Long Arm of Chromosome 12 by Brady, Angela F., Jamieson, C. Ruth, van der Burgt, Ineke, Crosby, Andrew, van Reen, Margo, Kremer, Hannie, Mariman, Edwin, Patton, Michael A., Jeffery, Steve

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Localization of a gene for Moebius syndrome to chromosome 3q by linkage analysis in a Dutch family by Kremer, H, Kuyt, L P, van den Helm, B, van Reen, M, Leunissen, JAM, Hamel, BCJ, Jansen, C, Mariman, ECM, Frants, R R, Padberg, G W

“…Moebius syndrome (MIM no. 157900) consists of a congenital paresis or paralysis of the VIIth cranial nerve, frequently accompanied by paralysis of other…”
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