Hollway GE - Search Results

1

Deafness due to Pro250Arg mutation of FGFR3.

Hollway GE, Suthers GK, Battese KM, Turner AM, David DJ, Mulley JC. Hollway GE, et al. Lancet. 1998 Mar 21;351(9106):877-8. doi: 10.1016/S0140-6736(98)24012-8. Lancet. 1998. PMID: 9525367 No abstract available.

2

Mutation detection in FGFR2 craniosynostosis syndromes.

Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC. Hollway GE, et al. Hum Genet. 1997 Feb;99(2):251-5. doi: 10.1007/s004390050348. Hum Genet. 1997. PMID: 9048930

3

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. Muenke M, et al. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.

4

Localization of craniosynostosis Adelaide type to 4p16.

Hollway GE, Phillips HA, Adès LC, Haan EA, Mulley JC. Hollway GE, et al. Hum Mol Genet. 1995 Apr;4(4):681-3. doi: 10.1093/hmg/4.4.681. Hum Mol Genet. 1995. PMID: 7633418

5

Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders.

Hollway GE, Mulley JC. Hollway GE, et al. Clin Genet. 1998 Aug;54(2):152-4. doi: 10.1111/j.1399-0004.1998.tb03719.x. Clin Genet. 1998. PMID: 9761395 No abstract available.

6

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.

Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Phillips HA, et al. Among authors: hollway ge. Nat Genet. 1995 May;10(1):117-8. doi: 10.1038/ng0595-117. Nat Genet. 1995. PMID: 7647781

7

Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.

Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC. Edwards MJ, et al. Among authors: hollway ge. Am J Med Genet. 1994 Oct 15;53(1):65-71. doi: 10.1002/ajmg.1320530114. Am J Med Genet. 1994. PMID: 7802039

8

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation.

Gécz J, Barnett S, Liu J, Hollway G, Donnelly A, Eyre H, Eshkevari HS, Baltazar R, Grunn A, Nagaraja R, Gilliam C, Peltonen L, Sutherland GR, Baron M, Mulley JC. Gécz J, et al. Genomics. 1999 Dec 15;62(3):356-68. doi: 10.1006/geno.1999.6032. Genomics. 1999. PMID: 10644433

9

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Kalscheuer VM, et al. Am J Hum Genet. 2003 Jun;72(6):1401-11. doi: 10.1086/375538. Epub 2003 May 7. Am J Hum Genet. 2003. PMID: 12736870 Free PMC article.

10

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.

Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Eur J Hum Genet. 2021 May;29(5):760-770. doi: 10.1038/s41431-020-00796-4. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437033 Free PMC article.

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