Kremer H - Search Results

1

A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.

Kraaij R, Post M, Kremer H, Milgrom E, Epping W, Brunner HG, Grootegoed JA, Themmen AP. Kraaij R, et al. Among authors: kremer h. J Clin Endocrinol Metab. 1995 Nov;80(11):3168-72. doi: 10.1210/jcem.80.11.7593421. J Clin Endocrinol Metab. 1995. PMID: 7593421 Free article.

2

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

Kremer H, Kraaij R, Toledo SP, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers HH, Mariman E, et al. Kremer H, et al. Nat Genet. 1995 Feb;9(2):160-4. doi: 10.1038/ng0295-160. Nat Genet. 1995. PMID: 7719343 Free article.

3

A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty.

Kremer H, Martens JW, van Reen M, Verhoef-Post M, Wit JM, Otten BJ, Drop SL, Delemarre-van de Waal HA, Pombo-Arias M, De Luca F, Potau N, Buckler JM, Jansen M, Parks JS, Latif HA, Moll GW, Epping W, Saggese G, Mariman EC, Themmen AP, Brunner HG. Kremer H, et al. J Clin Endocrinol Metab. 1999 Mar;84(3):1136-40. doi: 10.1210/jcem.84.3.5515. J Clin Endocrinol Metab. 1999. PMID: 10084607

4

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

Kremer H, Mariman E, Otten BJ, Moll GW Jr, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, et al. Kremer H, et al. Hum Mol Genet. 1993 Nov;2(11):1779-83. doi: 10.1093/hmg/2.11.1779. Hum Mol Genet. 1993. PMID: 8281137

5

A new phenotype of autosomal dominant nemaline myopathy.

Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, Vogels OJ. Gommans IM, et al. Among authors: kremer h. Neuromuscul Disord. 2002 Jan;12(1):13-8. doi: 10.1016/s0960-8966(01)00231-0. Neuromuscul Disord. 2002. PMID: 11731279

6

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H. Kalay E, et al. Among authors: kremer h. J Mol Med (Berl). 2005 Dec;83(12):1025-32. doi: 10.1007/s00109-005-0719-4. Epub 2005 Nov 8. J Mol Med (Berl). 2005. PMID: 16283141

7

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H. Kalay E, et al. Among authors: kremer h. Hum Mutat. 2005 Dec;26(6):591. doi: 10.1002/humu.9384. Hum Mutat. 2005. PMID: 16287143

8

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.

Luijendijk MW, van de Pol TJ, van Duijnhoven G, den Hollander AI, ten Caat J, van Limpt V, Brunner HG, Kremer H, Cremers FP. Luijendijk MW, et al. Among authors: kremer h. Genomics. 2003 Oct;82(4):480-90. doi: 10.1016/s0888-7543(03)00150-2. Genomics. 2003. PMID: 13679028

9

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Tartaglia M, et al. Among authors: kremer h. Nat Genet. 2001 Dec;29(4):465-8. doi: 10.1038/ng772. Nat Genet. 2001. PMID: 11704759

10

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.

Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H. Kalay E, et al. Among authors: kremer h. J Mol Med (Berl). 2007 Apr;85(4):397-404. doi: 10.1007/s00109-006-0136-3. Epub 2007 Jan 9. J Mol Med (Berl). 2007. PMID: 17211611

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