List of works - Markus Draaken

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

scientific article published on 01 August 2010

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

scientific article published on 24 February 2009

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.

scientific article published on 22 August 2012

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

scientific article published on 10 May 2013

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

scientific article

CNV analysis in monozygotic twin pairs discordant for urorectal malformations

scientific article published on 9 May 2013

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

scientific article

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

article

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis ofEFNB2in patients with anorectal malformations

article

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

scientific article published on 29 June 2011

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

article published in 2011

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

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

scientific article published on 03 April 2013

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

scientific article

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

scientific article published on July 2010

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family

scientific article published in September 2010

Familial occurrence of the VATER/VACTERL association

scientific article published on 16 March 2012

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

scientific article published on 30 September 2014

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.

scientific article

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

scientific article published on 22 March 2011

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

scientific article published on 24 September 2014

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

scientific article published on 8 August 2014

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.

scientific article

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

scientific article published on 29 January 2013

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

scientific article published on 12 January 2011

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

Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias

scientific article published on 2 July 2012

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

scientific article published on November 2011

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

scientific article published on 30 January 2012

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

scientific article published on 20 May 2014

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

scientific article

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

scientific article

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

scientific article published on 23 October 2013

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

scientific article

List of works by Markus Draaken

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

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

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.

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

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

CNV analysis in monozygotic twin pairs discordant for urorectal malformations

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

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

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis ofEFNB2in patients with anorectal malformations

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

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

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

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

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

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

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family

Familial occurrence of the VATER/VACTERL association

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

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.

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

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

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

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.

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

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

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

Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias

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

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

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

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

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

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

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