List of works - Andreas Tzschach

11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features ⬇️

scientific article published on 01 October 2010

12q24.33 deletion: Report of a patient with intellectual disability and review of the literature ⬇️

scientific article published on April 23, 2013

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

scientific article

Christianson syndrome in a patient with an interstitial Xq26.3 deletion ⬇️

scientific article published on September 19, 2011

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

scientific article

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

scientific article

Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability ⬇️

scientific article published on September 10, 2012

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate ⬇️

scientific article published on May 25, 2012

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

scientific article

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome ⬇️

scientific article published on July 25, 2012

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

scientific journal article

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

scientific article

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

scientific journal article

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

scientific article (publication date: December 2003)

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

scientific article

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

scientific article published on 15 November 2020

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

scientific article

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

scientific article published on 25 July 2017

Novel SLC9A6 mutations in two families with Christianson syndrome ⬇️

scientific article published on August 30, 2012

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

scientific article published on 18 December 2018

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome) ⬇️

scientific article published on April 9, 2012

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

scientific article published on 30 July 2018

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

scientific article

Skeletal abnormalities are common features in Aymé-Gripp syndrome

scientific article published on 03 November 2019

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability

scientific article

Variants in CUL4B are associated with cerebral malformations

scientific article

Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability ⬇️

scientific article published on March 12, 2013

List of works by Andreas Tzschach

11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features ⬇️

12q24.33 deletion: Report of a patient with intellectual disability and review of the literature ⬇️

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

Christianson syndrome in a patient with an interstitial Xq26.3 deletion ⬇️

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability ⬇️

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate ⬇️

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome ⬇️

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Novel SLC9A6 mutations in two families with Christianson syndrome ⬇️

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome) ⬇️

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Skeletal abnormalities are common features in Aymé-Gripp syndrome

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability

Variants in CUL4B are associated with cerebral malformations

Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability ⬇️