Otten BJ - Search Results

1

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.

Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BC, Otten BJ, Hergersberg M, et al. Kotzot D, et al. Among authors: otten bj. Hum Mol Genet. 1995 Apr;4(4):583-7. doi: 10.1093/hmg/4.4.583. Hum Mol Genet. 1995. PMID: 7633407 Free article.

2

Maternal uniparental disomy 7--review and further delineation of the phenotype.

Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Kotzot D, et al. Among authors: otten bj. Eur J Pediatr. 2000 Apr;159(4):247-56. doi: 10.1007/s004310050064. Eur J Pediatr. 2000. PMID: 10789928

3

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.

Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC. Hamel BC, et al. Among authors: otten bj. Am J Med Genet. 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826446 Free article.

4

Immunological tolerance in an HLA non-identical chimeric twin.

Viëtor HE, Hamel BC, van Bree SP, van der Meer EM, Smeets DF, Otten BJ, Holl RA, Claas FH. Viëtor HE, et al. Among authors: otten bj. Hum Immunol. 2000 Mar;61(3):190-2. doi: 10.1016/s0198-8859(99)00183-4. Hum Immunol. 2000. PMID: 10689108

5

[Congenital hydrocephalus, oligophrenia, dwarfism, centripetal obesity and hypogonadism; an X-linked recessive hereditary illness?].

Sengers RC, Hamel BC, Otten BJ, van Gils JF, de Pagter AG. Sengers RC, et al. Among authors: otten bj. Tijdschr Kindergeneeskd. 1985 Feb;53(1):31-4. Tijdschr Kindergeneeskd. 1985. PMID: 4039476 Dutch.

6

Two frequent missense mutations in Pendred syndrome.

Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G. Van Hauwe P, et al. Hum Mol Genet. 1998 Jul;7(7):1099-104. doi: 10.1093/hmg/7.7.1099. Hum Mol Genet. 1998. PMID: 9618166

7

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. Among authors: otten bj. Hum Mol Genet. 1993 Nov;2(11):1779-83. doi: 10.1093/hmg/2.11.1779. Hum Mol Genet. 1993. PMID: 8281137

8

3-M syndrome: description of six new patients with review of the literature.

van der Wal G, Otten BJ, Brunner HG, van der Burgt I. van der Wal G, et al. Among authors: otten bj. Clin Dysmorphol. 2001 Oct;10(4):241-52. doi: 10.1097/00019605-200110000-00002. Clin Dysmorphol. 2001. PMID: 11665997 Review.

9

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Among authors: otten bj. Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28. Am J Med Genet A. 2012. PMID: 23023959

10

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.

Kempers MJ, van der Crabben SN, de Vroede M, Alfen-van der Velden J, Netea-Maier RT, Duim RA, Otten BJ, Losekoot M, Wit JM. Kempers MJ, et al. Among authors: otten bj. Horm Res Paediatr. 2013;80(6):390-6. doi: 10.1159/000355403. Epub 2013 Nov 23. Horm Res Paediatr. 2013. PMID: 24280736

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