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1.
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
2.
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Kidney Int
; 85(6): 1310-7, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24152966
3.
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
4.
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
5.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
J Clin Invest
; 133(8)2023 04 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-36862503
6.
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
7.
Inheritance of the VATER/VACTERL association.
Pediatr Surg Int
; 28(7): 681-5, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22581124
8.
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Birth Defects Res
; 114(10): 478-486, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35362267
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21042811
10.
A successful treatment strategy in infants and adolescents with anorectal malformation and incontinence with combined hydrocolonic ultrasound and bowel management.
Pediatr Surg Int
; 27(10): 1099-103, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21833723
11.
German network for congenital uro-rectal malformations: first evaluation and interpretation of postoperative urological complications in anorectal malformations.
Pediatr Surg Int
; 27(10): 1085-9, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21792651
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-20730541
13.
Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey.
Front Pediatr
; 8: 571, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33072661
14.
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
Birth Defects Res
; 109(13): 1063-1069, 2017 Jul 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-28605140
15.
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.
Am J Med Genet A
; 155A(2): 445-9, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21271671
16.
First results of a European multi-center registry of patients with anorectal malformations.
J Pediatr Surg
; 48(12): 2530-5, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24314198
17.
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.
Eur J Hum Genet
; 21(12): 1377-82, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23549274
18.
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study.
Orphanet J Rare Dis
; 7: 65, 2012 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22978793
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