Crowe C - Search Results

1

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. Marsh DJ, et al. Among authors: crowe c. Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993

2

Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.

Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S. Christ LA, et al. Among authors: crowe ca. Am J Hum Genet. 1999 Nov;65(5):1387-95. doi: 10.1086/302606. Am J Hum Genet. 1999. PMID: 10521304 Free PMC article.

3

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D. Oshima J, et al. Hum Genet. 2009 Sep;126(3):411-23. doi: 10.1007/s00439-009-0679-9. Epub 2009 May 16. Hum Genet. 2009. PMID: 19449031

4

Parental origin of De Novo chromosome 9 deletions in del(9p) syndrome.

Micale MA, Haren JM, Conroy JM, Crowe CA, Schwartz S. Micale MA, et al. Among authors: crowe ca. Am J Med Genet. 1995 May 22;57(1):79-81. doi: 10.1002/ajmg.1320570118. Am J Med Genet. 1995. PMID: 7645605

5

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE. Brown CA, et al. Among authors: crowe ca. Am J Med Genet. 2001 Sep 1;102(4):359-67. doi: 10.1002/ajmg.1463. Am J Med Genet. 2001. PMID: 11503164

6

Natural history of mosaic trisomy 14 syndrome.

Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Fujimoto A, et al. Among authors: crowe ca. Am J Med Genet. 1992 Sep 15;44(2):189-96. doi: 10.1002/ajmg.1320440214. Am J Med Genet. 1992. PMID: 1456290 Review.

7

Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes.

Crowe CA, Schwartz S, Black CJ, Jaswaney V. Crowe CA, et al. Am J Med Genet. 1997 Sep 5;71(4):406-13. Am J Med Genet. 1997. PMID: 9286446 Review.

8

Germline mosaicism in Cornelia de Lange syndrome.

Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID. Slavin TP, et al. Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581668 Free PMC article.

9

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.

Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith AC. Pollin TI, et al. Among authors: crowe ca. Am J Med Genet. 1999 Aug 6;85(4):369-75. Am J Med Genet. 1999. PMID: 10398263

10

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.

Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP. Inoue K, et al. Among authors: crowe c. Ann Neurol. 2002 Dec;52(6):836-42. doi: 10.1002/ana.10404. Ann Neurol. 2002. PMID: 12447940

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