Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
CM Kolvenbach, AT van der Ven… - American Journal of …, 2021 - Wiley Online Library
… with VATER/VACTERL and comprises a large spectrum of … association. A potential link
between the cholesterol pathway… congenital malformations resembling the VATER/VACTERL …
between the cholesterol pathway… congenital malformations resembling the VATER/VACTERL …
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance
A Gomes, LF Zapata, CI Galarreta… - American Journal of …, 2024 - Wiley Online Library
… , the spectrum of anomalies was broadened … VACTERL association does not have a specific
ICD-10 code, we used the codes Q87.89 (other specified congenital malformation syndrome…
ICD-10 code, we used the codes Q87.89 (other specified congenital malformation syndrome…
Prenatal imaging of anorectal malformations—10-year experience at a tertiary center in Switzerland
L Rohrer, Y Vial, C Gengler, E Tenisch, L Alamo - Pediatric radiology, 2020 - Springer
… Anorectal malformation is a complex spectrum of congenital defects of the distal bowel …
associated anomalies; three had a VACTERL association and two a caudal regression syndrome. …
associated anomalies; three had a VACTERL association and two a caudal regression syndrome. …
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
…, S Döhnert, C Kraus, G Kadgien, I Vater… - British Journal of …, 2020 - nature.com
Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome
caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients …
caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients …
Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes
CI Galarreta, E Hoyt, L Forero… - American Journal of …, 2023 - Wiley Online Library
… of VACTERL/VATER association involves a minimum of three congenital malformations …
expression in patients with the VACTERL association spectrum. A possible explanation of this …
expression in patients with the VACTERL association spectrum. A possible explanation of this …
The DATE association: a separate entity or a further extension of the VACTERL association?
S Ceccanti, P Midrio, M Messina, G Mattioli… - … of surgical research, 2019 - Elsevier
… birth defect, occurring in about 1 of every 4000 births worldwide. Although this spectrum of
malformations can … at least another birth defect, among which cardiac anomalies are the most …
malformations can … at least another birth defect, among which cardiac anomalies are the most …
[HTML][HTML] Developmental basis of trachea-esophageal birth defects
NA Edwards, V Shacham-Silverberg, L Weitz… - Developmental …, 2021 - Elsevier
… ), are a spectrum of life-threatening congenital anomalies in which the … Up until recently, the
developmental basis of these … of a syndrome in association with other defects (eg. VACTERL …
developmental basis of these … of a syndrome in association with other defects (eg. VACTERL …
Genetic counseling and diagnostics in anorectal malformation
C Marcelis, G Dworschak, I de Blaauw… - European Journal of …, 2021 - thieme-connect.com
… They separated the VACTERL patients in three groups: The STRICT-VACTERL …
VACTERL-PLUS patients have an additional major congenital anomaly outside the VACTERL …
VACTERL-PLUS patients have an additional major congenital anomaly outside the VACTERL …
Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)
AN Talati, CM Webster, NL Vora - Prenatal diagnosis, 2019 - Wiley Online Library
… , they have also been shown to cause a wide spectrum of disorders. However, despite the
sharp increase in NPHP-… VATER syndrome (or VACTERL association) is a sequence of …
sharp increase in NPHP-… VATER syndrome (or VACTERL association) is a sequence of …
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
J Fabian, GC Dworschak, L Waffenschmidt… - European Journal of …, 2023 - nature.com
… syndrome or within the spectrum of additional congenital … are congenital heart defects (CHD),
congenital anomalies of … ARM as part of her VATER/VACTERL association, with further …
congenital anomalies of … ARM as part of her VATER/VACTERL association, with further …