Kerr B - Search Results

1

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML. Gong Y, et al. Among authors: kerr b. Am J Hum Genet. 1999 Feb;64(2):570-7. doi: 10.1086/302249. Am J Hum Genet. 1999. PMID: 9973295 Free PMC article.

2

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. van Bokhoven H, et al. Among authors: kerr b. Nat Genet. 2000 Aug;25(4):423-6. doi: 10.1038/78113. Nat Genet. 2000. PMID: 10932187

3

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H. Blair E, et al. Among authors: kerr b. Hum Mol Genet. 2001 May 15;10(11):1215-20. doi: 10.1093/hmg/10.11.1215. Hum Mol Genet. 2001. PMID: 11371514

4

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. Lehmann K, et al. Among authors: kerr b. Am J Hum Genet. 2007 Aug;81(2):388-96. doi: 10.1086/519697. Epub 2007 Jun 8. Am J Hum Genet. 2007. PMID: 17668388 Free PMC article.

5

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. Choufani S, et al. Among authors: kerr b. Am J Hum Genet. 2020 May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. Am J Hum Genet. 2020. PMID: 32243864 Free PMC article.

6

Localisation of the MRX3 gene for non-specific X linked mental retardation.

Gedeon A, Kerr B, Mulley J, Turner G. Gedeon A, et al. Among authors: kerr b. J Med Genet. 1991 Jun;28(6):372-7. doi: 10.1136/jmg.28.6.372. J Med Genet. 1991. PMID: 1870093 Free PMC article.

7

Pericentromeric genes for non-specific X-linked mental retardation (MRX).

Gedeon A, Kerr B, Mulley J, Turner G. Gedeon A, et al. Among authors: kerr b. Am J Med Genet. 1994 Jul 15;51(4):553-64. doi: 10.1002/ajmg.1320510453. Am J Med Genet. 1994. PMID: 7943039

8

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Adès LC, Chia NL, Wilson MJ. Mowat DR, et al. Among authors: kerr ba. J Med Genet. 1998 Aug;35(8):617-23. doi: 10.1136/jmg.35.8.617. J Med Genet. 1998. PMID: 9719364 Free PMC article.

9

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.

Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. Fisher AM, et al. Among authors: kerr b. Hum Genet. 2002 Sep;111(3):290-6. doi: 10.1007/s00439-002-0787-2. Epub 2002 Jul 20. Hum Genet. 2002. PMID: 12215843

10

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: kerr b. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.

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