Franco LM - Search Results

1

A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.

Burrage LC, Eble TN, Hixson PM, Roney EK, Cheung SW, Franco LM. Burrage LC, et al. Among authors: franco lm. Am J Med Genet A. 2013 Apr;161A(4):841-4. doi: 10.1002/ajmg.a.35751. Epub 2013 Feb 26. Am J Med Genet A. 2013. PMID: 23444363 Free PMC article.

2

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Ben-Shachar S, et al. Among authors: franco lm. J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15. J Med Genet. 2009. PMID: 19289393 Free PMC article.

3

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.

Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW. Franco LM, et al. Eur J Hum Genet. 2010 Feb;18(2):258-61. doi: 10.1038/ejhg.2009.164. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844260 Free PMC article.

4

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Carvalho CM, et al. Among authors: franco lm. Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944. Nat Genet. 2011. PMID: 21964572 Free PMC article.

5

The practice of adult genetics: a 7-year experience from a single center.

Eble TN, Nagamani SC, Franco LM, Plon SE, Blazo M, Dhar SU. Eble TN, et al. Among authors: franco lm. Am J Med Genet A. 2013 Jan;161A(1):89-93. doi: 10.1002/ajmg.a.35684. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239603 Free PMC article. Review.

6

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW. Lalani SR, et al. Among authors: franco lm. Hum Mol Genet. 2013 Nov 1;22(21):4339-48. doi: 10.1093/hmg/ddt283. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773997 Free PMC article.

7

Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood.

Pal CV, Eble TN, Burnside RD, Bi W, Patel A, Franco LM. Pal CV, et al. Among authors: franco lm. Eur J Med Genet. 2014 May-Jun;57(6):264-6. doi: 10.1016/j.ejmg.2014.03.001. Epub 2014 Mar 15. Eur J Med Genet. 2014. PMID: 24636861 Free PMC article.

8

Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: clonal evolution unchecked.

Niravath P, Eble T, Contreras A, Li M, Franco LM, Rimawi M. Niravath P, et al. Among authors: franco lm. Exp Hematol Oncol. 2015 Jan 6;4(1):1. doi: 10.1186/2162-3619-4-1. eCollection 2015. Exp Hematol Oncol. 2015. PMID: 25671134 Free PMC article.

9

Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.

Franco LM, Goldstein J, Prose NS, Selim MA, Tirado CA, Coale MM, McDonald MT. Franco LM, et al. J Am Acad Dermatol. 2006 Jul;55(1):136-8. doi: 10.1016/j.jaad.2005.11.1068. J Am Acad Dermatol. 2006. PMID: 16781308

10

FBN1 mutations in patients with descending thoracic aortic dissections.

Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. Brautbar A, et al. Among authors: franco lm. Am J Med Genet A. 2010 Feb;152A(2):413-6. doi: 10.1002/ajmg.a.32856. Am J Med Genet A. 2010. PMID: 20082464 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

129 results

Search Page