Holloway LW - Search Results

1

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC, Leppig KA. Parisi MA, et al. Among authors: holloway lw. Am J Med Genet. 2002 Feb 15;108(1):51-6. doi: 10.1002/ajmg.10185. Am J Med Genet. 2002. PMID: 11857550

2

Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus.

Graf WD, Born DE, Shaw DW, Thomas JR, Holloway LW, Michaelis RC. Graf WD, et al. Among authors: holloway lw. Ann Neurol. 2000 Jan;47(1):113-7. Ann Neurol. 2000. PMID: 10632110

3

Brainstem diffusion-weighted MRI in boys with L1CAM mutations.

Graf WD, Born DE, Shaw DW, Thomas JR, Holloway LW, Michaelis RC. Graf WD, et al. Among authors: holloway lw. Eur J Pediatr Surg. 1999 Dec;9 Suppl 1:41-2. Eur J Pediatr Surg. 1999. PMID: 10661793 No abstract available.

4

Prenatal diagnosis of L1 cell adhesion molecule mutations. Capabilities and limitations.

Moya GE, Michaelis RC, Holloway LW, Sanchez JM. Moya GE, et al. Among authors: holloway lw. Fetal Diagn Ther. 2002 Mar-Apr;17(2):115-9. doi: 10.1159/000048020. Fetal Diagn Ther. 2002. PMID: 11844917

5

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Castelluccio VJ, Vetrini F, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD. Castelluccio VJ, et al. Am J Med Genet A. 2019 Dec;179(12):2357-2364. doi: 10.1002/ajmg.a.61353. Epub 2019 Sep 12. Am J Med Genet A. 2019. PMID: 31512387

6

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Abidi FE, et al. J Med Genet. 2008 Dec;45(12):787-93. doi: 10.1136/jmg.2008.058990. Epub 2008 Aug 12. J Med Genet. 2008. PMID: 18697827 Free PMC article.

7

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

Lah M, Niranjan T, Srikanth S, Holloway L, Schwartz CE, Wang T, Weaver DD. Lah M, et al. Am J Med Genet A. 2016 Apr;170A(4):881-90. doi: 10.1002/ajmg.a.37567. Epub 2016 Jan 24. Am J Med Genet A. 2016. PMID: 26804200 Free PMC article.

8

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi F, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Abidi F, et al. Hum Genet. 2009 Apr;125(3):344. Hum Genet. 2009. PMID: 19320021 No abstract available.

9

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi F, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Abidi F, et al. Hum Genet. 2009 Apr;125(3):345. Hum Genet. 2009. PMID: 19320023 No abstract available.

10

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi F, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Abidi F, et al. Hum Genet. 2009 Apr;125(3):345. Hum Genet. 2009. PMID: 19320024 No abstract available.

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