Detalles de la búsqueda
1.
Parental risk factors for congenital diaphragmatic hernia - a large German case-control study.
BMC Pediatr
; 21(1): 278, 2021 06 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34126946
2.
Utilization and determinants of follow-up colonoscopies within 6 years after screening colonoscopy: Prospective cohort study.
Int J Cancer
; 144(2): 402-410, 2019 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30203838
3.
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
PLoS Genet
; 11(3): e1005024, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25763902
4.
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Hum Mol Genet
; 23(20): 5536-44, 2014 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24852367
5.
Parental risk factors of anorectal malformations: Analysis with a regional population-based control group.
Birth Defects Res A Clin Mol Teratol
; 106(2): 133-41, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26690556
6.
More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.
Eur J Pediatr
; 175(6): 825-31, 2016 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-26979529
7.
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.
Birth Defects Res A Clin Mol Teratol
; 103(4): 235-42, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25250690
8.
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Birth Defects Res A Clin Mol Teratol
; 100(10): 750-9, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25131394
9.
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.
Birth Defects Res A Clin Mol Teratol
; 100(6): 483-92, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24841934
10.
Assisted reproductive techniques and risk of exstrophy-epispadias complex: a German case-control study.
J Urol
; 189(4): 1524-9, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23201374
11.
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
Am J Med Genet A
; 161A(12): 3035-41, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24038947
12.
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.
Birth Defects Res A Clin Mol Teratol
; 97(12): 786-91, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24307608
13.
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Biomolecules
; 13(7)2023 07 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37509153
14.
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
Eur J Hum Genet
; 31(1): 105-111, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36319675
15.
Postoperative complications in adults with anorectal malformation: a need for transition. German Network for Congenital Uro-REctal Malformations (CURE-Net).
Pediatr Surg Int
; 28(8): 793-5, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22772590
16.
Sexual function in adults with anorectal malformation: psychosocial adaptation. German Network for Congenital Uro-REctal Malformations (CURE-Net).
Pediatr Surg Int
; 28(8): 789-92, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22791012
17.
Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies.
Pediatr Surg Int
; 28(8): 825-30, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22821084
18.
Inheritance of the VATER/VACTERL association.
Pediatr Surg Int
; 28(7): 681-5, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22581124
19.
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.
HGG Adv
; 3(2): 100093, 2022 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35199045
20.
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.
J Pediatr
; 159(5): 825-831.e1, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21679965