Brunner HG - Search Results

1

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: brunner hg. Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809484 Free PMC article.

2

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, Nelen MR, Smeets DF, Niermeijer MF, et al. Meijers-Heijboer EJ, et al. Among authors: brunner hg. J Med Genet. 1992 Dec;29(12):853-7. doi: 10.1136/jmg.29.12.853. J Med Genet. 1992. PMID: 1362220 Free PMC article.

3

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP, et al. Bach I, et al. Among authors: brunner hg. Am J Hum Genet. 1992 Jul;51(1):38-44. Am J Hum Genet. 1992. PMID: 1609803 Free PMC article.

4

Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.

Brunner HG, Winter RM. Brunner HG, et al. J Med Genet. 1991 Jun;28(6):389-94. doi: 10.1136/jmg.28.6.389. J Med Genet. 1991. PMID: 1870095 Free PMC article.

5

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. Brunner HG, et al. Hum Mol Genet. 1994 Sep;3(9):1561-4. doi: 10.1093/hmg/3.9.1561. Hum Mol Genet. 1994. PMID: 7833911

6

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG, et al. Huber I, et al. Among authors: brunner hg. Hum Mol Genet. 1994 Jul;3(7):1151-4. doi: 10.1093/hmg/3.7.1151. Hum Mol Genet. 1994. PMID: 7981685

7

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

Brunner HG, Nelen MR, van Zandvoort P, Abeling NG, van Gennip AH, Wolters EC, Kuiper MA, Ropers HH, van Oost BA. Brunner HG, et al. Am J Hum Genet. 1993 Jun;52(6):1032-9. Am J Hum Genet. 1993. PMID: 8503438 Free PMC article.

8

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: brunner hg. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461

9

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. van Bokhoven H, et al. Among authors: brunner hg. Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246. Am J Hum Genet. 1999. PMID: 9973291 Free PMC article.

10

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.

den Hollander AI, van der Velde-Visser SD, Pinckers AJ, Hoyng CB, Brunner HG, Cremers FP. den Hollander AI, et al. Among authors: brunner hg. Hum Genet. 1999 Jan;104(1):73-6. doi: 10.1007/s004390050912. Hum Genet. 1999. PMID: 10071195

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