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Items: 1 to 20 of 49

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.

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.

3.

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
4.

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
5.
6.

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
7.

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.

8.

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

Maclean K, Dunwoodie SL.

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

PMID:
15151499
9.

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.

10.

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.

11.

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
12.

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
13.

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.

14.

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.

15.
16.

Oesophageal atresia: a handshake with malrotation.

Upadhyay V, Hea CM, Matthews RD.

Eur J Pediatr Surg. 2001 Dec;11(6):368-70.

PMID:
11807664
17.

Congenital short-bowel and malrotation: clinical presentation and outcome of six affected offspring in three related families.

Erez I, Reish O, Kovalivker M, Lazar L, Raz A, Katz S.

Eur J Pediatr Surg. 2001 Oct;11(5):331-4.

PMID:
11719873
18.

Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.

Shanske A, Ferreira JC, Leonard JC, Fuller P, Marion RW.

Am J Med Genet. 2001 Aug 15;102(3):231-6. Review.

PMID:
11484199
19.

The forkhead transcription factor Foxf1 is required for differentiation of extra-embryonic and lateral plate mesoderm.

Mahlapuu M, Ormestad M, Enerbäck S, Carlsson P.

Development. 2001 Jan;128(2):155-66.

20.

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Bamford RN, Roessler E, Burdine RD, Saplakoğlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B.

Nat Genet. 2000 Nov;26(3):365-9. Erratum in: Nat Genet 2000 Dec;26(4):501.

PMID:
11062482

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