S. Grasshoff‐Derr

发表

Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.

M. Nöthen, M. Lacher, N. Zwink, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

I. V. van Rooij, D. Tibboel, V. Tasic, 2013, Kidney international.

Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study

H. Brenner, N. Zwink, E. Jenetzky, 2012, Orphanet Journal of Rare Diseases.

Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families.

M. Lacher, J. Schumacher, N. Zwink, 2016, Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus.

Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies

K. Jablonka, N. Zwink, E. Jenetzky, 2012, Pediatric Surgery International.

German Network for Congenital Uro-REctal Malformations: first evaluation and interpretation of postoperative urological complications in anorectal malformations

N. Zwink, E. Jenetzky, H. Reutter, 2011, Pediatric Surgery International.

A successful treatment strategy in infants and adolescents with anorectal malformation and incontinence with combined hydrocolonic ultrasound and bowel management

T. Meyer, S. Grasshoff‐Derr, K. Backhaus, 2011, Pediatric Surgery International.

Towards the perfect ARM center: the European Union’s criteria for centers of expertise and their implementation in the member states. A report from the ARM-Net

M. Lacher, S. Sarnacki, E. Jenetzky, 2015, Pediatric Surgery International.

European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations

I. V. van Rooij, M. Lacher, E. Jenetzky, 2015, Techniques in Coloproctology.

First results of a European multi-center registry of patients with anorectal malformations.

I. V. van Rooij, E. Jenetzky, H. Reutter, 2013, Journal of pediatric surgery.

Practice of dilatation after surgical correction in anorectal malformations

N. Zwink, E. Jenetzky, H. Reutter, 2012, Pediatric Surgery International.

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

I. V. van Rooij, H. Brunner, M. Clementi, 2010, Pediatric Surgery International.

What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members’ opinion

I. V. van Rooij, C. Grano, M. Lacher, 2019, Pediatric Surgery International.

A Quality Assessment of the ARM-Net Registry Design and Data Collection.

I. V. van Rooij, C. Grano, M. Lacher, 2023, Journal of pediatric surgery.

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

M. Nöthen, B. Herrmann, L. Wittler, 2013, European Journal of Human Genetics.

Inheritance of the VATER/VACTERL association

M. Nöthen, B. Solomon, N. Zwink, 2012, Pediatric Surgery International.

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature

M. Nöthen, P. Hoffmann, S. Aretz, 2011, European Journal of Pediatrics.

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

R. Pfundt, M. Nöthen, I. V. van Rooij, 2013, American journal of medical genetics. Part A.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2022, bioRxiv.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2021, bioRxiv.

Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL‐like association, and isolated anorectal malformation

M. Lacher, E. Jenetzky, H. Reutter, 2022, Birth defects research.

Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey

I. V. van Rooij, M. Lacher, E. Jenetzky, 2020, Frontiers in Pediatrics.

De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation

P. Hoffmann, S. Aretz, A. Zink, 2011, American journal of medical genetics. Part A.

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.

M. Nöthen, M. Lacher, N. Zwink, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.

S. Heilmann-Heimbach, M. Lacher, F. Degenhardt, 2017, Birth defects research.

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

I. V. van Rooij, D. Tibboel, V. Tasic, 2013, Kidney international.

Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium

C. Grano, I. Rooij, M. Lacher, 2017, Pediatric Surgery International.

Exome sequencing trios with VACTERL

E. Jenetzky, E. Schmiedeke, J. Hoefele, 2024, Kidney International Reports.