Format
Sort by

Send to

Choose Destination

Links from Books

Items: 1 to 20 of 69

1.

Congenital diaphragmatic hernia: where and what is the evidence?

Losty PD.

Semin Pediatr Surg. 2014 Oct;23(5):278-82. doi: 10.1053/j.sempedsurg.2014.09.008. Epub 2014 Sep 4. Review.

PMID:
25459012
2.

Prenatal and postnatal findings in five cases of Fryns syndrome.

Peron A, Bedeschi MF, Fabietti I, Baffero GM, Fogliani R, Ciralli F, Mosca F, Rizzuti T, Leva E, Lalatta F.

Prenat Diagn. 2014 Dec;34(12):1227-30. doi: 10.1002/pd.4447. Epub 2014 Jul 22. No abstract available.

PMID:
24996149
3.

Fetoscopic endoluminal tracheal occlusion (FETO) for congenital diaphragmatic hernia in Australia and New Zealand: are we willing, able, both or neither?

Cundy TP, Gardener GJ, Andersen CC, Kirby CP, McBride CA, Teague WJ.

J Paediatr Child Health. 2014 Mar;50(3):226-33. doi: 10.1111/jpc.12457. Epub 2013 Dec 23. Review.

PMID:
24372875
4.

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.

Brady PD, DeKoninck P, Fryns JP, Devriendt K, Deprest JA, Vermeesch JR.

Prenat Diagn. 2013 Dec;33(13):1283-92. doi: 10.1002/pd.4244. Epub 2013 Nov 14.

PMID:
24122781
5.

A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.

Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, Powers GC.

Am J Med Genet A. 2013 Dec;161A(12):3121-5. doi: 10.1002/ajmg.a.36086. Epub 2013 Oct 2. Erratum in: Am J Med Genet A. 2014 Jul;164A(7):1872.

PMID:
24115482
6.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL.

Am J Hum Genet. 2013 Oct 3;93(4):765-72. doi: 10.1016/j.ajhg.2013.08.014. Epub 2013 Sep 26. Erratum in: Am J Hum Genet. 2013 Nov 7;93(5):994.

7.

Repair of congenital diaphragmatic hernias on Extracorporeal Membrane Oxygenation (ECMO): does early repair improve patient survival?

Fallon SC, Cass DL, Olutoye OO, Zamora IJ, Lazar DA, Larimer EL, Welty SE, Moise AA, Demny AB, Lee TC.

J Pediatr Surg. 2013 Jun;48(6):1172-6. doi: 10.1016/j.jpedsurg.2013.03.008.

PMID:
23845603
8.

Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings.

Arora K, Thukral A, Das RR, Gupta N, Kabra M, Agarwal R.

Indian J Pediatr. 2014 Jun;81(6):614-6. doi: 10.1007/s12098-013-1011-1. Epub 2013 Apr 19.

PMID:
23604607
9.

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID.

Am J Med Genet A. 2012 Dec;158A(12):3046-53. doi: 10.1002/ajmg.a.35726. Epub 2012 Nov 20.

PMID:
23169773
10.

Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.

Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK.

Hum Genet. 2013 Mar;132(3):285-92. doi: 10.1007/s00439-012-1249-0. Epub 2012 Nov 9.

11.

De novo copy number variants are associated with congenital diaphragmatic hernia.

Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK.

J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135.

12.

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA.

Hum Mol Genet. 2012 Sep 15;21(18):4115-25. doi: 10.1093/hmg/dds241. Epub 2012 Jun 20.

13.

Chromosome 15q24 microdeletion syndrome.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Review.

14.

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
15.

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.

Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR.

Am J Med Genet A. 2010 Oct;152A(10):2493-504. doi: 10.1002/ajmg.a.33618.

16.

Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation.

Hosokawa S, Takahashi N, Kitajima H, Nakayama M, Kosaki K, Okamoto N.

Congenit Anom (Kyoto). 2010 Jun;50(2):129-32. doi: 10.1111/j.1741-4520.2010.00270.x. Epub 2010 Feb 11.

PMID:
20156239
17.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

18.

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.

Dentici ML, Brancati F, Mingarelli R, Dallapiccola B.

Eur J Med Genet. 2009 Nov-Dec;52(6):421-5. doi: 10.1016/j.ejmg.2009.09.008. Epub 2009 Oct 1.

PMID:
19800039
19.

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
20.

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.

Items per page

Supplemental Content

Write to the Help Desk