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Items: 1 to 20 of 55

1.

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C.

Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Erratum in: Am J Hum Genet. 2009 Oct;85(4):537. multiple author names added.

2.

Hardikar syndrome: new features.

Poley JR, Proud VK.

Am J Med Genet A. 2008 Oct 1;146A(19):2473-9. doi: 10.1002/ajmg.a.32266.

PMID:
18792981
3.

Cytogenetic technology--genotype and phenotype.

Ledbetter DH.

N Engl J Med. 2008 Oct 16;359(16):1728-30. doi: 10.1056/NEJMe0806570. Epub 2008 Sep 10. No abstract available.

PMID:
18784093
4.

The chirality of gut rotation derives from left-right asymmetric changes in the architecture of the dorsal mesentery.

Davis NM, Kurpios NA, Sun X, Gros J, Martin JF, Tabin CJ.

Dev Cell. 2008 Jul;15(1):134-45. doi: 10.1016/j.devcel.2008.05.001.

5.

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y.

Am J Med Genet A. 2008 Jul 1;146A(13):1713-7. doi: 10.1002/ajmg.a.32304. Review.

PMID:
18512226
6.

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature.

van Bever Y, van Hest L, Wolfs R, Tibboel D, van den Hoonaard TL, Gischler SJ.

Am J Med Genet A. 2008 Feb 15;146A(4):500-4. doi: 10.1002/ajmg.a.32169. Review.

PMID:
18203155
7.

Jack Barney Award. The changing spectrum of intestinal malrotation: diagnosis and management.

McVay MR, Kokoska ER, Jackson RJ, Smith SD.

Am J Surg. 2007 Dec;194(6):712-7; discussion 718-9.

PMID:
18005759
8.

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.

Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A.

Am J Hum Genet. 2007 Apr;80(4):751-8. Epub 2007 Feb 26.

9.

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

Maegawa GH, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P, Kim J, Taylor G, McNamara PJ.

Clin Dysmorphol. 2006 Oct;15(4):191-6. Review.

PMID:
16957470
10.

Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.

Balci S, Engiz O, Aktaş D, Vargel I, Beksaç MS, Mrasek K, Vermeesch J, Liehr T.

Am J Med Genet A. 2006 Mar 15;140(6):628-32.

PMID:
16470698
11.
12.

Familial malrotation: report of three affected siblings.

Beaudoin S, Mathiot-Gavarin A, Gouizi G, Bargy F.

Pediatr Surg Int. 2005 Oct;21(10):856-7. Epub 2005 Oct 21.

PMID:
16205928
13.

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.

Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D.

J Med Genet. 2005 Sep;42(9):730-6.

14.

Breaking symmetry: a clinical overview of left-right patterning.

Maclean K, Dunwoodie SL.

Clin Genet. 2004 Jun;65(6):441-57. Review.

PMID:
15151499
15.

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP.

J Med Genet. 2004 Apr;41(4):241-8.

16.

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW.

Am J Hum Genet. 2004 Jan;74(1):93-105. Epub 2003 Dec 16.

17.

Triphalangeal thumb in a case of VACTERL-hydrocephalus association.

Balci S, Senocak ME, Derbent M.

Genet Couns. 2003;14(2):257-8. No abstract available.

PMID:
12872824
18.

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP.

Am J Med Genet. 2002 Dec 15;113(4):339-45. Review.

PMID:
12457405
19.

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.

Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC.

J Med Genet. 2002 Nov;39(11):807-11. No abstract available.

20.

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints.

Kocks A, Endele S, Heller R, Schröder B, Schäfer HJ, Städtler C, Makrigeorgi-Butera M, Winterpacht A.

J Med Genet. 2002 May;39(5):E23. No abstract available.

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