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Items: 1 to 20 of 101

1.

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR.

Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025. Erratum in: Am J Med Genet A. 2006 May 1;140(9):1031. Blaise, F [added].

2.

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.

Kantarci S, Donahoe PK.

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):217-26. Review.

PMID:
17436295
3.

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.

Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B.

Hum Mol Genet. 2007 Feb 15;16(4):424-30. Epub 2007 Jan 8.

PMID:
17210672
4.

[Fryns syndrome. Report on 3 new cases].

Alessandri JL, Attali T, Brayer C, Dupuy L, Pilorget H, Ramful D, Samperiz S, Tiran-Rajaofera I, Robin S.

Arch Pediatr. 2007 Jul;14(7):903-7. Epub 2007 Apr 17. French.

PMID:
17442547
5.

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A.

Am J Hum Genet. 2005 May;76(5):877-82. Epub 2005 Mar 4.

6.

Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.

Aboud MJ, Al-Shamsy MM.

Pediatr Surg Int. 2011 Jun;27(6):567-71. doi: 10.1007/s00383-010-2831-y.

PMID:
21259013
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.

Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.

van Dooren MF, Brooks AS, Hoogeboom AJ, van den Hoonaard TL, de Klein JE, Wouters CH, Tibboel D.

Am J Med Genet A. 2004 Jun 1;127A(2):194-6.

PMID:
15108210
9.

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA.

J Med Genet. 2011 May;48(5):299-307. doi: 10.1136/jmg.2011.089680.

10.

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA.

Eur J Hum Genet. 2006 Sep;14(9):999-1008. Epub 2006 May 31.

11.

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.

Klaassens M, Galjaard RJ, Scott DA, Br├╝ggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A.

Am J Med Genet A. 2007 Sep 15;143A(18):2204-12. Review.

PMID:
17702015
12.
13.
14.

Fryns syndrome: a case associated with karyotype XO.

Dawani NM, Al Madhoob AR, Ali FA, Shabib F.

Ann Saudi Med. 2004 Mar-Apr;24(2):129-32. No abstract available.

PMID:
15323276
15.

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH.

Am J Med Genet A. 2009 Aug;149A(8):1661-77. doi: 10.1002/ajmg.a.32896.

16.

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.

Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D.

Am J Med Genet A. 2014 Mar;164A(3):648-54. doi: 10.1002/ajmg.a.36323. Epub 2013 Dec 19.

PMID:
24357154
17.

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.

Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15.

PMID:
20951845
18.

Congenital diaphragmatic hernia associated with duplication of 11q23-qter.

Klaassens M, Scott DA, van Dooren M, Hochstenbach R, Eussen HJ, Cai WW, Galjaard RJ, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A.

Am J Med Genet A. 2006 Jul 15;140(14):1580-6.

19.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

Genet Med. 2007 Sep;9(9):607-16. Review.

PMID:
17873649
20.

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

Casaccia G, Mobili L, Braguglia A, Santoro F, Bagolan P.

Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):210-3.

PMID:
16498629

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