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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  100

Schneider, E; Pliushch, G; El Hajj, N et al.

Spatial, temporal and interindividual epigenetic variation of functionally important DNA methylation patterns

NUCLEIC ACIDS RESEARCH. Bd. 38. H. 12. 2010 S. 3880-3890


Bartsch, O; Labonte, J; Albrecht, B et al.

Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 152A. H. 1. 2010 S. 181-184


Puhl, AG; Zelazny, J; Galetzka, D et al.

Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY. Bd. 150. H. 2. 2010 S. 119-125


Lehnen, H; Schafer, S; Poarangan, C et al.

Unequivocal Determination of Zygosity of Same-Sex Twins by Molecular Genetic Analysis

GEBURTSHILFE UND FRAUENHEILKUNDE. Bd. 70. H. 12. 2010 S. 979-984





Haensel, J; Kohlschmidt, N; Pitz, S et al.

Case Report Supporting That the Barber-Say and Ablepharon Macrostomia Syndromes Could Represent One Disorder

Am J Med Genet. Bd. 149. 2009 S. 2236-2240



Hansmann, T; Nanda, I; Volobouev, V et al.

Cross-Species Chromosome Painting Corroborates Microchromosome Fusion during Karyotype Evolution of Birds

CYTOGENETIC AND GENOME RESEARCH. Bd. 126. H. 3. 2009 S. 281-304


Farcas, R; Schneider, E; Frauenknecht, K et al.

Differences in DNA methylation patterns and expression of the CCRK gene in human and nonhuman primate cortices.

Mol Biol Evol. Bd. 26. H. 6. 2009 S. 1379-89


Zechner, U; Kohlschmidt, N; Rittner, G et al.

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.

Clin Genet. Bd. 75. H. 3. 2009 S. 251-8




Barber, TD; Garcia, NM; Henkemeyer, M et al.

GENETIC MAPPING OF THE CRITICAL REGION FOR GENITAL AND ANORECTAL MALFORMATIONS ON HUMAN CHROMOSOME 13

JOURNAL OF UROLOGY. Bd. 181. H. 4. 2009 S. 258-258


Damatova, N; Beyer, V; Galetzka, D et al.

Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.

Cytogenet Genome Res. Bd. 125. H. 3. 2009 S. 241-7



Wenzel, JJ; Rossmann, H; Fottner, C et al.

Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences

Clin Chem. Bd. 55. H. 7. 2009 S. 1361-71



Herlyn, Holger; Zechner, Ulrich; Oswald, Franz et al.

Positive selection at codon 38 of the human kcne1 (= mink) gene and sporadic absence of 38ser-coding mrnas in gly38ser heterozygotes

Bmc evolutionary biology. Bd. 9. London: BioMed Central Ltd 2009 188


Passuello, V; Puhl, AG; Wirth, S et al.

Pregnancy Outcome in Maternal Crigler-Najjar Syndrome Type II: A Case Report and Systematic Review of the Literature

FETAL DIAGNOSIS AND THERAPY. Bd. 26. H. 3. 2009 S. 121-126


Caksen, H; Bartsch, O; Okur, M et al.

RUBINSTEIN-TAYBI SYNDROME AND CREBBP c.201_202delTA MUTATION: A CASE PRESENTING WITH VARICELLA MENINGOENCEPHALITIS

GENETIC COUNSELING. Bd. 20. H. 3. 2009 S. 255-260



Wieczorek, D; Bartsch, O; Lechno, S et al.

Two Adults With Rubinstein-Taybi Syndrome With Mild Mental Retardation, Glaucoma, Normal Growth and Skull Circumference, and Camptodactyly of Third Fingers

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 149A. H. 12. 2009 S. 2849-2854


May, A; Reifenberg, K; Zechner, U et al.

Asynchronous replication dynamics of imprinted and non-imprinted chromosome regions in early mouse embryos.

Exp Cell Res. Bd. 314. H. 15. 2008 S. 2788-95


Dünschede, F; Tybl, E; Kiemer, A et al.

Bcl-2 upregulation after 3-nitropropionic acid preconditioning in warm rat liver ischemia

Shock. Bd. 30. H. 6. 2008 S. 699-704


Tuysuz, B; Demirel, A; Uysal, S et al.

Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.

Genet Couns. Bd. 19. H. 1. 2008 S. 29-35


Pantakani, DV; Zechner, U; Arygriou, L et al.

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

Clin Genet. Bd. 73. H. 3. 2008 S. 268-72


Wildhardt, G; Trübenbach, J; Kohlschmidt, N et al.

Familial Beckwith-Wiedemann syndrome caused by novel mutations in the CDKN1C-gene

Medizinische Genetik. Bd. 20. H. 1. 2008 S. 119


Haaf, T

Genetische Beratung von Kinderwunschpaaren

GYN Praktische Gynäkologie. Bd. 13. 2008 S. 193-201


Puusepp, H; Zordania, R; Paal, M et al.

Girl with partial turner syndrome and absence epilepsy.

Pediatr Neurol. Bd. 38. H. 4. 2008 S. 289-92




Galetzka, D; Weis, E; Rittner, G et al.

Microarray mRNA expression analysis of Fanconi anemia fibroblasts

Cytogenet Genome Res. Bd. 121. 2008 S. 10-13


Zovoilis, A; Nolte, J; Drusenheimer, N et al.

Multipotent adult germline stem cells and embryonic stem cells have similar microRNA profiles.

Mol Hum Reprod. Bd. 14. H. 9. 2008 S. 521-9


Hoffarth, S; Zitzer, A; Wiewrodt, R et al.

pp32/PHAPI determines the apoptosis response of non-small-cell lung cancer.

Cell Death Differ. Bd. 15. H. 1. 2008 S. 161-70


Balci, S; Ergun, MA; Yuksel-Konuk, EB et al.

Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.

Turk J Pediatr. Bd. 50. H. 3. 2008 S. 265-8


Nanda, I; Schlegelmilch, K; Haaf, T et al.

Synteny conservation of the Z chromosome in 14 avian species (11 families) supports a role for Z dosage in avian sex determination

Cytogenet Genome Res. Bd. 122. 2008 S. 150-156


Korenkov, M; Kohlschmidt, N; Zechner, U et al.

Adipositaschirurgie bei monogenetisch bedingter Adipositas

Zentralbl Chir. Bd. 132. 2007 S. 256-259



Zimmermann, N; Acosta, AM; Kohlhase, J et al.

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome

Eur J Hum Genet. Bd. 15. H. 8. 2007 S. 837-842


Dünzinger, U; Haaf, T; Zechner, U

Conserved synteny of mammalian imprinted genes in chicken, frog, and fish genomes

Cytogenet Genome Res. Bd. 117. 2007 S. 78-85




Galetzka, D; Weis, E; Kohlschmidt, N et al.

Expression of somatic DNA repair genes in human testes

J Cell Biochem. Bd. 100. 2007 S. 1232-1239


Nanda, I; Buwe, A; Wizenman, A et al.

Fanconi anemia genes in vertebrates: evolutionary conservation, sex-linkage, and embryonic expression of FANCC and FANCG in avian cells

Schindler D, Hoehn H (Hrsg). Fanconi Anemia. A Paradigmatic Disease for the Understanding of Cancer and Aging. Basel: Karger 2007


Nolte, J; Rathsack, K; Drusenheimer, N et al.

Männliche Keimzellen aus embryonalen Stammzellen

Medizinische Genetik. Bd. 19. 2007 S. 10-17





Mikelsaar, R; Molder, H; Bartsch, O et al.

Two novel deletions (array CGH findings) in pigment dispersion syndrome.

Ophthalmic Genet. Bd. 28. H. 4. 2007 S. 216-9


Yue, Y; Haaf, T

7E olfactory receptor gene clusters and evolutionary chromosome rearrangements

Cytogenet Genome Res. Bd. 112. 2006 S. 6-10


Metzler, M; Forster, A; Pannell, R et al.

A conditional model of MLL-AF4 B-cell tumourigenesis using invertor technology.

Oncogene. Bd. 25. H. 22. 2006 S. 3093-103



Garcia, NM; Allgood, J; Santos, LJ et al.

DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13.

J Pediatr Urol. Bd. 2. H. 4. 2006 S. 233-242






Ruf, N; Dünzinger, U; Brinckmann, A et al.

Expression profiling of uniparental mouse embryos is inefficient in identifying novel imprinted genes

Genomics. Bd. 87. 2006 S. 509-519


Haaf, T

Fine mapping of gene ordering by elongated chromosome methods

Celis J (Hrsg). Cell Biology: A Laboratory Handbook. Volume 3. 3. Aufl. The Netherlands: Elsvier 2006


Schneider, G; Weber, A; Zechner, U et al.

GADD45alpha is highly expressed in pancreatic ductal adenocarcinoma cells and required for tumor cell viability.

Int J Cancer. Bd. 118. H. 10. 2006 S. 2405-11


Loitzsch, A; Bartsch, O

Healthy 12-year-old boy with mosaic inv dup(15)(q13).

Am J Med Genet. Bd. 140. H. 6. 2006 S. 640-3


Nayernia, K; Nolte, J; Michelmann, HW et al.

In vitro-differentiated embryonic stem cells give rise to male gametes that can generate offspring mice

Dev Cell. Bd. 11. 2006 S. 125-132


Daser, A; Thangavelu, M; Pannell, R et al.

Interrogation of genomes by molecular copy-number counting (MCC)

Nat Methods. Bd. 3. 2006 S. 447-453


Yue, Y; Grossmann, B; Galetzka, D et al.

Isolation and differential expression of two isoforms of ROBO2/Robo2 axon guidance receptor gene in humans and mice

Genomics. Bd. 88. 2006 S. 772-778


El-Maarri, O; Singer, H; Klein, C et al.

Lack of F8 mRNA: a novel mechanism leading to hemophilia A

Blood. Bd. 107. 2006 S. 2759-2765


Haaf, T

Methylation dynamics in the early mammalian embryo: implications of genome reprogramming defects for development

Doerfler W, Boehm P (Hrsg). Current Topics in Microbiology and Immunology. 310. Aufl. Berlin: Springer 2006


Fauth, C; Gribble, SM; Porter, KM et al.

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement

Hum Genet. Bd. 119. 2006 S. 145-153


Bartsch, O; Seemanova, E

Microdeletion Syndromes

Ganten D, Ruckpaul K (Hrsg). Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine. 1. Aufl. Berlin, Heidelberg, New York: Springer 2006


Oiglane-Shlik, E; Talvik, T; Zordania, R et al.

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.

Am J Med Genet. Bd. 140. H. 18. 2006 S. 1936-43


Yue, Y; Tsend-Ayush, E; Grützner, F et al.

Segmental duplication associated with evolutionary instability of human chromosome 3p25.1

Cytogenet Genome Res. Bd. 112. 2006 S. 202-207


Nijnik, A; Ferry, H; Lewis, G et al.

Spontaneous B cell hyperactivity in autoimmune-prone MRL mice.

Int Immunol. Bd. 18. H. 7. 2006 S. 1127-37


Eggermann, T; Krause-Plonka, I; Wollmann, HA et al.

Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.

Clin Dysmorphol. Bd. 15. H. 1. 2006 S. 9-12


Oiglane-Shlik, E; Zordania, R; Varendi, H et al.

The neonatal phenotype of Prader-Willi syndrome.

Am J Med Genet. Bd. 140. H. 11. 2006 S. 1241-4


Bartsch, O; Ergun, MA; Balci, S et al.

Two complementary recombinant chromosomes 5 in a healthy woman.

Cytogenet Genome Res. Bd. 114. H. 2. 2006 S. 178-82