Descartes MD - Search Results

1

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ. Mikhail FM, et al. Among authors: descartes md. Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177. Am J Med Genet A. 2011. PMID: 22031302

2

Terminal deletion of the long arm of chromosome 4 in a mother and two sons.

Descartes M, Keppler-Noreuil K, Knops J, Longshore JW, Finley WH, Carroll AJ. Descartes M, et al. Clin Genet. 1996 Dec;50(6):538-40. doi: 10.1111/j.1399-0004.1996.tb02733.x. Clin Genet. 1996. PMID: 9147894 Review.

3

Identification of a recombination event narrowing the Lafora disease gene region.

Maddox LO, Descartes M, Collins J, Keating J, Rosenfeld S, Palmer C, Carroll AJ, Kuzniecky R. Maddox LO, et al. J Med Genet. 1997 Jul;34(7):590-1. doi: 10.1136/jmg.34.7.590. J Med Genet. 1997. PMID: 9222970 Free PMC article.

4

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss.

Keppler-Noreuil KM, Carroll AJ, Finley SC, Descartes M, Cody JD, DuPont BR, Gay CT, Leach RJ. Keppler-Noreuil KM, et al. Am J Med Genet. 1998 Apr 13;76(5):372-8. doi: 10.1002/(sici)1096-8628(19980413)76:5<372::aid-ajmg2>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9556294

5

Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?

Biggio JR Jr, Descartes MD, Carroll AJ, Holt RL. Biggio JR Jr, et al. Among authors: descartes md. Am J Med Genet A. 2004 Apr 15;126A(2):183-5. doi: 10.1002/ajmg.a.20464. Am J Med Genet A. 2004. PMID: 15057983

6

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).

Mikhail FM, McIlvried D, Holt RL, Messiaen L, Descartes MD, Carroll AJ. Mikhail FM, et al. Among authors: descartes md. Am J Med Genet A. 2006 Aug 1;140(15):1647-54. doi: 10.1002/ajmg.a.31330. Am J Med Genet A. 2006. PMID: 16835929

7

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Ståhl T, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ. Mikhail FM, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2178-84. doi: 10.1002/ajmg.a.31882. Am J Med Genet A. 2007. PMID: 17676630

8

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.

Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM. Descartes M, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2937-43. doi: 10.1002/ajmg.a.32550. Am J Med Genet A. 2008. PMID: 18925675

9

Distal 22q11.2 microduplication encompassing the BCR gene.

Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM. Descartes M, et al. Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572. Am J Med Genet A. 2008. PMID: 19006218

10

AsktheGeneticist: five years of online experience.

Tesla C, Korf BR, Holt L, Prucka S, Robin NH, Descartes M, Lose E, Stembridge A, Epstein M, Warren S. Tesla C, et al. Genet Med. 2009 Apr;11(4):294-304. doi: 10.1097/GIM.0b013e31819b2441. Genet Med. 2009. PMID: 19282773 Free article.

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