E. Bartels

发表

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.

Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias.

M. Nöthen, L. Wittler, H. Reutter, 2010, Birth defects research. Part A, Clinical and molecular teratology.

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.

Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene.

M. Nöthen, H. Reutter, M. Ludwig, 2012, International journal of molecular medicine.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

B. D. de Vries, D. Koboldt, F. Gaunitz, 2022, American journal of human genetics.

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

M. Nöthen, I. V. van Rooij, M. Mattheisen, 2012, Clinical dysmorphology.

Inheritance of the VATER/VACTERL association

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

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.

M. Nöthen, J. Schumacher, N. Zwink, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Familial occurrence of the VATER/VACTERL association

M. Nöthen, P. Hoffmann, H. Reutter, 2012, Pediatric Surgery 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.

Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease

D. Zafeiriou, M. Mroczek, V. Straub, 2020, Neuropediatrics.

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.

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.

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.

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.

De novo microduplication at 22q11.21 in a patient with VACTERL association.

M. Nöthen, S. Aretz, F. Brockschmidt, 2011, European journal of medical genetics.

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.

M. Nöthen, I. V. van Rooij, T. Becker, 2014, Human molecular genetics.

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.

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype

T. Eggermann, H. Engels, H. Reutter, 2019, American journal of medical genetics. Part A.

De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

H. Reutter, M. Ludwig, B. Kazmierczak, 2011, Cytogenetic and Genome Research.

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.

M. Nöthen, J. Gearhart, S. Boyadjiev, 2011, The Journal of pediatrics.

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

M. Nöthen, S. Moebus, P. Hoffmann, 2013, Birth defects research. Part A, Clinical and molecular teratology.

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.

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.

M. Nöthen, B. Herrmann, L. Wittler, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.

M. Nöthen, S. Moebus, P. Hoffmann, 2010, European journal of medical genetics.

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.

Practice of dilatation after surgical correction in anorectal malformations

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

Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder.

M. Nöthen, M. Mattheisen, J. Schumacher, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

H. Lochmüller, R. Horvath, A. Sickmann, 2022, Orphanet Journal of Rare Diseases.

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.

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

D. Viskochil, R. Schnur, H. Sticht, 2023, Pediatric neurology.

CNV Analysis in Monozygotic Twin Pairs Discordant for Urorectal Malformations

M. Nöthen, H. Reutter, M. Ludwig, 2013, Twin Research and Human Genetics.

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.