M. Draaken

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.

CNV analysis in 169 patients with bladder exstrophy-epispadias complex

M. Nöthen, S. Moebus, A. Brusco, 2016, BMC Medical Genetics.

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.

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.

p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue.

L. Qi, L. Wittler, J. Gearhart, 2010, International journal of molecular medicine.

Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.

U. Gembruch, H. Reutter, M. Ludwig, 2015, Molecular medicine reports.

Familial occurrence of the VATER/VACTERL association

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

A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis

M. Ludwig, M. Draaken, F. Ozaltin, 2009, European Journal of Pediatrics.

An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.

M. Born, H. Reutter, M. Ludwig, 2013, International journal of molecular medicine.

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.

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Peter Nürnberg, Peter Frommolt, Janine Altmüller, 2011, American journal of human genetics.

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 Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

M. Nöthen, S. Moebus, M. Mattheisen, 2015, PLoS 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.

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

D. Nilsson, A. Lindstrand, G. Barker, 2015, Human molecular genetics.

WNT 3 involvement in human bladder exstrophy and cloaca development in zebra fi sh

D. Nilsson, A. Lindstrand, G. Barker, 2015 .

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

K. Chrzanowska, R. Jabs, S. Aretz, 2011, Human 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.

Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

M. Nöthen, H. Fröhlich, S. Moebus, 2015, International journal of cancer.

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.

Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex.

F. Martínez-Murillo, L. Qi, L. Wittler, 2011, International journal of molecular medicine.

Deep intronic APC mutations explain a substantial proportion of patients with familial or early‐onset adenomatous polyposis

P. Hoffmann, S. Aretz, M. Ludwig, 2012, Human mutation.

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.

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.

M. Mattheisen, L. Qi, J. Gearhart, 2013, Birth defects research. Part A, Clinical and molecular teratology.

A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL

M. Born, V. Tasic, M. Refke, 2012, Klinische Pädiatrie.

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

I. V. van Rooij, H. Brunner, R. Hofstra, 2014, Birth defects research. Part A, Clinical and molecular teratology.

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

M. Ludwig, N. Stajić, R. Bogdanović, 2010, Pediatric Nephrology.

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.

Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.

M. Knapp, F. Degenhardt, A. Zink, 2016, Birth defects research. Part A, Clinical and molecular teratology.

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.

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.

CNV Analysis in Monozygotic Twin Pairs Discordant for Urorectal Malformations

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