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Items: 1 to 20 of 89

1.

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP.

Am J Med Genet A. 2011 May;155A(5):1196-201. doi: 10.1002/ajmg.a.34002. Epub 2011 Apr 7. No abstract available.

PMID:
21480483
2.

Bilateral diaphragmatic defect and associated multiple anomalies.

Karadeniz L, Guven S, Atay E, Ovali F, Celayir A.

J Chin Med Assoc. 2009 Mar;72(3):163-5.

3.

Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily.

Wu YQ, Lin X, Liu CM, Jamrich M, Shaffer LG.

Mol Genet Metab. 2001 Apr;72(4):343-50.

PMID:
11286509
4.

A de novo interstitial 6q deletion in a boy with a split hand malformation.

Duran-Gonzalez J, Gutierrez-Angulo M, Garcia-Cruz D, Ayala Mde L, Padilla M, Davalos IP.

J Appl Genet. 2007;48(4):405-7.

PMID:
17998600
5.

Currarino triad with a terminal deletion 7q35-->qter.

Masuno M, Imaizumi K, Aida N, Tanaka Y, Sekido K, Ohhama Y, Nishi T, Kuroki Y.

J Med Genet. 1996 Oct;33(10):877-8.

6.

Accessory diaphragm--review of 31 cases in the literature.

Becmeur F, Horta P, Donato L, Christmann D, Sauvage P.

Eur J Pediatr Surg. 1995 Feb;5(1):43-7. Review.

PMID:
7756236
7.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
8.

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.

Roberts SH, Hughes HE, Davies SJ, Meredith AL.

J Med Genet. 1991 Jul;28(7):479-81. No abstract available.

9.

[Diaphragmatic defect in trisomy 13].

Reinbold WD, Back E, Reinwein H.

Rontgenblatter. 1986 May;39(5):127-9. German.

PMID:
3715344
10.

De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.

Speleman F, Craen M, Leroy J.

J Med Genet. 1989 Aug;26(8):528-32. Review.

11.

Congenital diaphragmatic hernia in WAGR syndrome.

Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW.

Am J Med Genet A. 2005 May 1;134(4):430-3. Review.

PMID:
15779010
12.

Long term follow-up in high-risk congenital diaphragmatic hernia survivors: patching the diaphragm affects the outcome.

Valfrè L, Braguglia A, Conforti A, Morini F, Trucchi A, Iacobelli BD, Nahom A, Chukhlantseva N, Dotta A, Corchia C, Bagolan P.

J Pediatr Surg. 2011 Jan;46(1):52-6. doi: 10.1016/j.jpedsurg.2010.09.061.

PMID:
21238639
13.

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, Frengen E.

Am J Med Genet A. 2008 Dec 15;146A(24):3230-3. doi: 10.1002/ajmg.a.32582. No abstract available.

PMID:
19012337
14.

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.

Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.

Clin Dysmorphol. 2007 Oct;16(4):253-6.

PMID:
17786117
15.

[Reconstruction of the diaphragm in extensive congenital diaphragmatic hernia].

Bagłaj M.

Polim Med. 1998;28(3-4):55-62. Review. Polish.

PMID:
10093156
16.

A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.

Park JP, McDermet MK, Moeschler JB, Wurster-Hill DH.

Ann Genet. 1993;36(4):217-20.

PMID:
8166428
17.

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

Walter S, Sandig K, Hinkel GK, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O.

Am J Med Genet A. 2004 Aug 1;128A(4):364-73.

PMID:
15264281
18.

A patient with a de novo 11q24.2-->qter deletion.

Spruijt L, Fryns JP, Hanekom J, Engelen JJ, Alofs M, Albrechts JC, Schrander-Stumpel CT.

Genet Couns. 2004;15(1):1-7.

PMID:
15083693
19.

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.

Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J.

Epilepsia. 2009 Nov;50(11):2501-3. doi: 10.1111/j.1528-1167.2009.02189.x. No abstract available.

20.
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