Detalhe da pesquisa
1.
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Am J Med Genet A
; 185(12): 3784-3792, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338422
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25250690
3.
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Kidney Int
; 85(6): 1310-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24152966
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131394
5.
Bowel Management in Hirschsprung Disease-Pre-, Peri- and Postoperative Care for Primary Pull-Through.
Children (Basel)
; 11(5)2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790583
6.
Treatment of Hirschsprung's Disease in Germany: Analysis of National Hospital Discharge Data From 2016 to 2022.
J Pediatr Surg
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38811258
7.
Treatment of Anorectal Malformations in German Hospitals: Analysis of National Hospital Discharge Data from 2016 to 2021.
Eur J Pediatr Surg
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38307106
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038947
9.
[Treatment for fecal incontinence in patients with anorectal malformations. Introduction of a therapeutic approach]. / Therapie der Inkontinenz am Beispiel anorektaler Fehlbildungen Vorstellung eines Behandlungskonzepts.
Pflege Z
; 66(10): 612-5, 2013 Oct.
Artigo
em Alemão
| MEDLINE | ID: mdl-24199369
10.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319675
11.
Inheritance of the VATER/VACTERL association.
Pediatr Surg Int
; 28(7): 681-5, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581124
12.
[Use of operationalized psychodynamic diagnostics in childhood and adolescence in patients with somatic diseases]. / Anwendung der Operationalisierten Psychodynamischen Diagnostik im Kindes- und Jugendalter bei somatischer Krankheit Eine Pilotstudie bei Patienten mit Anorektaler Malformation.
Psychother Psychosom Med Psychol
; 62(7): 259-65, 2012 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-22777904
13.
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.
Eur J Pediatr
; 170(6): 741-6, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21042811
14.
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.
Pediatr Surg Int
; 26(11): 1093-9, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20730541
15.
[Comorbidity and psychosocial need in children and adolescents with anorectal malformations]. / Psychiatrische Komorbidität und psychosozialer Betreuungsbedarf bei Kindern und Jugendlichen mit anorektalen Malformationen.
Prax Kinderpsychol Kinderpsychiatr
; 59(1): 38-51, 2010.
Artigo
em Alemão
| MEDLINE | ID: mdl-20229842
16.
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
Front Pediatr
; 8: 310, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656166
17.
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
PLoS One
; 15(6): e0234246, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32502225
18.
[Traumatologic pediatric emergencies--part I: Injury, drowning and blunt abdominal trauma]. / Traumatologische Kindernotfälle (Teil I): Verbrennungen, Ertrinken und stumpfes Bauchtrauma.
Anasthesiol Intensivmed Notfallmed Schmerzther
; 44(6): 440-4, 2009 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-19526449
19.
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.
Orphanet J Rare Dis
; 12(1): 180, 2017 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237507
20.
Transition of care in patients with anorectal malformations: Consensus by the ARM-net consortium.
J Pediatr Surg
; 52(11): 1866-1872, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28688794