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26 results
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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD, Richards J, George C, Godmilow L, Ganguly A. Bossler AD, et al. Among authors: godmilow l. Hum Mutat. 2006 Jul;27(7):667-75. doi: 10.1002/humu.20342. Hum Mutat. 2006. PMID: 16752392
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.
Nichols KE, Houseknecht MD, Godmilow L, Bunin G, Shields C, Meadows A, Ganguly A. Nichols KE, et al. Among authors: godmilow l. Hum Mutat. 2005 Jun;25(6):566-74. doi: 10.1002/humu.20184. Hum Mutat. 2005. PMID: 15884040
High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.
Citron M, Godmilow L, Ganguly T, Ganguly A. Citron M, et al. Among authors: godmilow l. Hum Mutat. 2002 Oct;20(4):267-74. doi: 10.1002/humu.10119. Hum Mutat. 2002. PMID: 12325022
Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.
Ganguly A, Dunbar T, Chen P, Godmilow L, Ganguly T. Ganguly A, et al. Among authors: godmilow l. Hum Genet. 2003 Sep;113(4):348-52. doi: 10.1007/s00439-003-0986-5. Epub 2003 Jul 12. Hum Genet. 2003. PMID: 12884004
Caucasian family with two independent mutations: 2594delC in BRCA1 and 5392delAG in BRCA2 gene.
Ganguly A, Citron M, Godmilow L, Ahrens M, Ganguly T. Ganguly A, et al. Among authors: godmilow l. Am J Med Genet. 2001 Jun 15;101(2):146-52. doi: 10.1002/1096-8628(20010615)101:2<146::aid-ajmg1342>3.0.co;2-e. Am J Med Genet. 2001. PMID: 11391658
Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations.
Ganguly A, Leahy K, Marshall AM, Dhulipala R, Godmilow L, Ganguly T. Ganguly A, et al. Among authors: godmilow l. Genet Test. 1997;1(2):85-90. doi: 10.1089/gte.1997.1.85. Genet Test. 1997. PMID: 10464631
High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families.
Ganguly T, Dhulipala R, Godmilow L, Ganguly A. Ganguly T, et al. Among authors: godmilow l. Hum Genet. 1998 May;102(5):549-56. doi: 10.1007/s004390050738. Hum Genet. 1998. PMID: 9654203
Duty to re-contact.
Hirschhorn K, Fleisher LD, Godmilow L, Howell RR, Lebel RR, McCabe ER, McGinniss MJ, Milunsky A, Pelias MZ, Pyeritz RE, Sujansky E, Thompson BH, Zinberg RE. Hirschhorn K, et al. Among authors: godmilow l. Genet Med. 1999 May-Jun;1(4):171-2. doi: 10.1097/00125817-199905000-00010. Genet Med. 1999. PMID: 11258354 No abstract available.
Commercialization of BRCA1/2 testing: practitioner awareness and use of a new genetic test.
Cho MK, Sankar P, Wolpe PR, Godmilow L. Cho MK, et al. Among authors: godmilow l. Am J Med Genet. 1999 Mar 19;83(3):157-63. doi: 10.1002/(sici)1096-8628(19990319)83:3<157::aid-ajmg4>3.0.co;2-g. Am J Med Genet. 1999. PMID: 10096590 Free PMC article.
Chorionic villus sampling followed by amniocentesis in the same pregnancy.
Donnenfeld AE, Librizzi RJ, Dunn LK, Craparo F, Godmilow L, Weiner S. Donnenfeld AE, et al. Among authors: godmilow l. Am J Med Genet. 1993 Feb 1;45(3):361-4. doi: 10.1002/ajmg.1320450316. Am J Med Genet. 1993. PMID: 7679544
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