Charnas L - Search Results

1

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill BR, Easterday MC, Staaf J, Oseth L, Czapansky-Beilman D, Avramopoulos D, Thomas GH, Borg A, Valle D, Schimmenti LA, Selleck SB. Balciuniene J, et al. Among authors: charnas l. Am J Hum Genet. 2007 May;80(5):938-47. doi: 10.1086/513607. Epub 2007 Mar 20. Am J Hum Genet. 2007. PMID: 17436248 Free PMC article.

2

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

Bishop L, Kanoff R, Charnas L, Krenzel C, Berry SA, Schimmenti LA. Bishop L, et al. Among authors: charnas l. J Child Neurol. 2008 Jul;23(7):823-8. doi: 10.1177/0883073808315410. J Child Neurol. 2008. PMID: 18658082

3

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe.

Kenworthy L, Park T, Charnas LR. Kenworthy L, et al. Among authors: charnas lr. Am J Med Genet. 1993 May 15;46(3):297-303. doi: 10.1002/ajmg.1320460312. Am J Med Genet. 1993. PMID: 8488875

4

Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.

Kenworthy L, Charnas L. Kenworthy L, et al. Among authors: charnas l. Am J Med Genet. 1995 Nov 20;59(3):283-90. doi: 10.1002/ajmg.1320590304. Am J Med Genet. 1995. PMID: 8599350

5

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC. Nussbaum RL, et al. Among authors: charnas l. Hum Genet. 1997 Feb;99(2):145-50. doi: 10.1007/s004390050329. Hum Genet. 1997. PMID: 9048911

6

Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.

Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, Nussbaum RL. Jänne PA, et al. Among authors: charnas lr. Cytogenet Cell Genet. 1994;66(3):164-6. doi: 10.1159/000133691. Cytogenet Cell Genet. 1994. PMID: 8125013

7

Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients.

Oz G, Tkác I, Charnas LR, Choi IY, Bjoraker KJ, Shapiro EG, Gruetter R. Oz G, et al. Among authors: charnas lr. Neurology. 2005 Feb 8;64(3):434-41. doi: 10.1212/01.WNL.0000150906.52208.E7. Neurology. 2005. PMID: 15699371

8

The oculocerebrorenal syndrome of Lowe.

Charnas LR, Gahl WA. Charnas LR, et al. Adv Pediatr. 1991;38:75-107. Adv Pediatr. 1991. PMID: 1927708 Review. No abstract available.

9

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA. Charnas LR, et al. N Engl J Med. 1991 May 9;324(19):1318-25. doi: 10.1056/NEJM199105093241904. N Engl J Med. 1991. PMID: 2017228 Free article.

10

MRI findings and peripheral neuropathy in Lowe's syndrome.

Charnas L, Bernar J, Pezeshkpour GH, Dalakas M, Harper GS, Gahl WA. Charnas L, et al. Neuropediatrics. 1988 Feb;19(1):7-9. doi: 10.1055/s-2008-1052393. Neuropediatrics. 1988. PMID: 2834662

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