Oliver Bartsch

Mainz, RP, Germany

Last Updated: 09/26/2026

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Found 9 publications

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.

Journal: American journal of medical genetics. Part A

Published: July 17, 2010

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Journal: American journal of medical genetics. Part A

Published: January 19, 2010

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

Journal: American journal of medical genetics. Part A

Published: December 17, 2009

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Journal: Cytogenetic and genome research

Published: December 20, 2006

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Journal: Human genetics

Published: April 10, 2006

Two complementary recombinant chromosomes 5 in a healthy woman.

Two complementary recombinant chromosomes 5 in a healthy woman.

Journal: Cytogenetic and genome research

Published: October 14, 2005

Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.

Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.

Journal: European journal of human genetics : EJHG

Published: August 04, 2005

FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).

FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).

Journal: European journal of human genetics : EJHG

Published: March 10, 2005

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Journal: Human genetics

Published: February 02, 2005

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Last Updated: 09/26/2026