Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
Boppudi, S., Bögershausen, N., Hove, H.B., Percin, E.F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P.B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M.R., Heindl, L.M., Zenker, M.
Published in Clinical genetics (01.10.2016)
Published in Clinical genetics (01.10.2016)
Get full text
Journal Article
Relaxin signalling links tyrosine phosphorylation to phosphodiesterase and adenylyl cyclase activity
Bartsch, Olaf, Bartlick, Bettina, Ivell, Richard
Published in Molecular human reproduction (01.09.2001)
Published in Molecular human reproduction (01.09.2001)
Get full text
Journal Article
GJB2 Mutations and Genotype-Phenotype Correlation in 335 Patients from Germany with Nonsyndromic Sensorineural Hearing Loss: Evidence for Additional Recessive Mutations Not Detected by Current Methods
Bartsch, O., Vatter, A., Zechner, U., Kohlschmidt, N., Wetzig, C., Baumgart, A., Nospes, S., Haaf, T., Keilmann, A.
Published in Audiology & neurotology (01.01.2010)
Published in Audiology & neurotology (01.01.2010)
Get full text
Journal Article
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects
Bartsch, O., Kirmes, I., Thiede, A., Lechno, S., Gocan, H., Florian, I.S., Haaf, T., Zechner, U., Sabova, L., Horn, F.
Published in Molecular syndromology (01.08.2012)
Published in Molecular syndromology (01.08.2012)
Get full text
Journal Article
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype
Zechner, U, Kohlschmidt, N, Rittner, G, Damatova, N, Beyer, V, Haaf, T, Bartsch, O
Published in Clinical genetics (01.03.2009)
Published in Clinical genetics (01.03.2009)
Get full text
Journal Article
Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane‐Shlik, E., Bartsch, O.
Published in American journal of medical genetics. Part A (01.11.2004)
Published in American journal of medical genetics. Part A (01.11.2004)
Get full text
Journal Article
FTO and INSIG2 Genotyping Combined with Metabolic and Anthropometric Phenotyping of Morbidly Obese Patients
Burgdörfer, E., Korenkov, M., Jonas, D., Weise, D., Haaf, T., Zechner, U., Bartsch, O.
Published in Molecular syndromology (01.09.2013)
Published in Molecular syndromology (01.09.2013)
Get full text
Journal Article
Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 → qter
Tchirikov, M., Merinsky, A., Strohner, M., Bonin, M., Beyer, V., Haaf, T., Bartsch, O.
Published in American journal of medical genetics. Part A (01.03.2010)
Published in American journal of medical genetics. Part A (01.03.2010)
Get full text
Journal Article
Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss
Vona, B., Neuner, C., El Hajj, N., Schneider, E., Farcas, R., Beyer, V., Zechner, U., Keilmann, A., Poot, M., Bartsch, O., Nanda, I., Haaf, T.
Published in Molecular syndromology (01.01.2014)
Published in Molecular syndromology (01.01.2014)
Get full text
Journal Article
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Bartsch, O, Locher, K, Meinecke, P, Kress, W, Seemanová, E, Wagner, A, Ostermann, K, Rödel, G
Published in Journal of medical genetics (01.07.2002)
Published in Journal of medical genetics (01.07.2002)
Get full text
Journal Article
A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes
Caglayan, A O, Lechno, S, Gumus, H, Bartsch, O, Fryns, J P
Published in Genetic counseling (01.01.2011)
Get full text
Published in Genetic counseling (01.01.2011)
Journal Article
Haploinsufficiency of 16.4 Mb from Chromosome 22pter-q11.21 in a Girl with Unilateral Conductive Hearing Loss
Damatova, N., Beyer, V., Galetzka, D., Schneider, E., Napiontek, U., Keilmann, A., Zechner, U., Bartsch, O., Haaf, T.
Published in Cytogenetic and genome research (01.01.2009)
Published in Cytogenetic and genome research (01.01.2009)
Get full text
Journal Article
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
Bartsch, O., Vlčková, Z., Erdogan, F., Ullmann, R., Novotná, D., Spiegel, M., Beyer, V., Haaf, T., Zechner, U., Seemanová, E.
Published in Cytogenetic and genome research (01.12.2007)
Published in Cytogenetic and genome research (01.12.2007)
Get full text
Journal Article
Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis
Çaksen, H, Bartsch, O, Okur, M, Temel, H, Açikgoz, M, Yilmaz, C
Published in Genetic counseling (01.01.2009)
Get full text
Published in Genetic counseling (01.01.2009)
Journal Article
Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia
Wolak, S, Rücker, B, Kohlschmidt, N, Doetsch, S, Bartsch, O, Zechner, U, Tzanova, I
Published in Der Anaesthesist (01.09.2014)
Published in Der Anaesthesist (01.09.2014)
Get full text
Journal Article
Two complementary recombinant chromosomes 5 in a healthy woman
Bartsch, O., Ergun, M.A., Balci, S., Kan, D., Eggermann, T., Kotzot, D.
Published in Cytogenetic and genome research (01.01.2006)
Published in Cytogenetic and genome research (01.01.2006)
Get full text
Journal Article