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Items: 1 to 20 of 102

1.

Vitamin A deficiency in an infant with PAGOD syndrome.

Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D.

Am J Med Genet A. 2009 Oct;149A(10):2241-7. doi: 10.1002/ajmg.a.32998.

PMID:
19760653
2.

Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion.

Jani JC, Nicolaides KH, Gratacós E, Valencia CM, Doné E, Martinez JM, Gucciardo L, Cruz R, Deprest JA.

Ultrasound Obstet Gynecol. 2009 Sep;34(3):304-10. doi: 10.1002/uog.6450.

3.

Decreased surfactant phosphatidylcholine synthesis in neonates with congenital diaphragmatic hernia during extracorporeal membrane oxygenation.

Janssen DJ, Zimmermann LJ, Cogo P, Hamvas A, Bohlin K, Luijendijk IH, Wattimena D, Carnielli VP, Tibboel D.

Intensive Care Med. 2009 Oct;35(10):1754-60. doi: 10.1007/s00134-009-1564-7. Epub 2009 Jul 7.

4.

Factors associated with survival in infants with congenital diaphragmatic hernia requiring extracorporeal membrane oxygenation: a report from the Congenital Diaphragmatic Hernia Study Group.

Seetharamaiah R, Younger JG, Bartlett RH, Hirschl RB; Congenital Diaphragmatic Hernia Study Group.

J Pediatr Surg. 2009 Jul;44(7):1315-21. doi: 10.1016/j.jpedsurg.2008.12.021.

PMID:
19573654
5.

Changing perspectives on the perinatal management of isolated congenital diaphragmatic hernia in Europe.

Deprest JA, Gratacos E, Nicolaides K, Done E, Van Mieghem T, Gucciardo L, Claus F, Debeer A, Allegaert K, Reiss I, Tibboel D.

Clin Perinatol. 2009 Jun;36(2):329-47, ix. doi: 10.1016/j.clp.2009.03.004. Review.

PMID:
19559323
6.

Psychological outcome and quality of life in children born with congenital diaphragmatic hernia.

Peetsold MG, Huisman J, Hofman VE, Heij HA, Raat H, Gemke RJ.

Arch Dis Child. 2009 Nov;94(11):834-40. doi: 10.1136/adc.2008.156158. Epub 2009 Jun 15.

PMID:
19531530
7.
8.

Understanding abnormal retinoid signaling as a causative mechanism in congenital diaphragmatic hernia.

Clugston RD, Zhang W, Alvarez S, de Lera AR, Greer JJ.

Am J Respir Cell Mol Biol. 2010 Mar;42(3):276-85. doi: 10.1165/rcmb.2009-0076OC. Epub 2009 May 15.

PMID:
19448158
9.

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.

Theisen A, Rosenfeld JA, Farrell SA, Harris CJ, Wetzel HH, Torchia BA, Bejjani BA, Ballif BC, Shaffer LG.

Am J Med Genet A. 2009 May;149A(5):914-8. doi: 10.1002/ajmg.a.32767.

PMID:
19353629
10.

Motor performance in five-year-old extracorporeal membrane oxygenation survivors: a population-based study.

Nijhuis-van der Sanden MW, van der Cammen-van Zijp MH, Janssen AJ, Reuser JJ, Mazer P, van Heijst AF, Gischler SJ, Tibboel D, Kollée LA.

Crit Care. 2009;13(2):R47. doi: 10.1186/cc7770. Epub 2009 Apr 2.

11.

Parental age as a risk factor for isolated congenital malformations in a Polish population.

Materna-Kiryluk A, Wiśniewska K, Badura-Stronka M, Mejnartowicz J, Wieckowska B, Balcar-Boroń A, Czerwionka-Szaflarska M, Gajewska E, Godula-Stuglik U, Krawczyński M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Szwalkiewicz-Warowicka E, Walczak M, Latos-Bieleńska A.

Paediatr Perinat Epidemiol. 2009 Jan;23(1):29-40. doi: 10.1111/j.1365-3016.2008.00979.x.

PMID:
19228312
12.

Prenatal diagnosis of ectopic intrathoracic kidney in a fetus with a left diaphragmatic hernia.

Panda B, Rosenberg V, Cornfeld D, Stiller R.

J Clin Ultrasound. 2009 Jan;37(1):47-9. doi: 10.1002/jcu.20503.

PMID:
18615674
13.

Neurodevelopmental outcomes of congenital diaphragmatic hernia survivors followed in a multidisciplinary clinic at ages 1 and 3.

Friedman S, Chen C, Chapman JS, Jeruss S, Terrin N, Tighiouart H, Parsons SK, Wilson JM.

J Pediatr Surg. 2008 Jun;43(6):1035-43. doi: 10.1016/j.jpedsurg.2008.02.029.

PMID:
18558179
14.

Genetic aspects of human congenital diaphragmatic hernia.

Pober BR.

Clin Genet. 2008 Jul;74(1):1-15. doi: 10.1111/j.1399-0004.2008.01031.x. Epub 2008 May 28. Review.

15.

The pulmonary outcome of long-term survivors after congenital diaphragmatic hernia repair.

Basek P, Bajrami S, Straub D, Moeller A, Baenziger O, Wildhaber J, Bernet V.

Swiss Med Wkly. 2008 Mar 22;138(11-12):173-9. doi: 2008/11/smw-11970.

16.

Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: results of a case-control study.

Felix JF, van Dooren MF, Klaassens M, Hop WC, Torfs CP, Tibboel D.

Birth Defects Res A Clin Mol Teratol. 2008 Feb;82(2):98-105. doi: 10.1002/bdra.20423.

PMID:
18172903
17.

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
18.

Defect size determines survival in infants with congenital diaphragmatic hernia.

Congenital Diaphragmatic Hernia Study Group, Lally KP, Lally PA, Lasky RE, Tibboel D, Jaksic T, Wilson JM, Frenckner B, Van Meurs KP, Bohn DJ, Davis CF, Hirschl RB.

Pediatrics. 2007 Sep;120(3):e651-7.

PMID:
17766505
19.

Clinical correlations and pulmonary function at 8 years of age after severe neonatal respiratory failure.

Majaesic CM, Jones R, Dinu IA, Montgomery MD, Sauve RS, Robertson CM.

Pediatr Pulmonol. 2007 Sep;42(9):829-37.

PMID:
17654569
20.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR.

Nat Genet. 2007 Aug;39(8):957-9. Epub 2007 Jul 15.

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