J. Bürger

发表

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

K. Sperling, A. Reis, B. Horsthemke, 1997, American journal of human genetics.

associated with an incomplete imprinting defect Exceptionally mild Angelman syndrome phenotype

K. Brockmann, J. Bürger, R. Böhm, 2006 .

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

D. Horn, A. Reis, H. Tönnies, 2002, American journal of medical genetics.

Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect

K. Brockmann, J. Bürger, R. Böhm, 2002, Journal of medical genetics.

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

R. Spritz, K. Fukai, K. Moore, 1996, American journal of human genetics.

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.

R. Spritz, D. Nagle, K. Moore, 1997, Human molecular genetics.

Intracytoplasmic sperm injection may increase the risk of imprinting defects.

Bai-Lin Wu, K. Sperling, V. Lip, 2002, American journal of human genetics.

Localisation of gene for the naevoid basal-cell carcinoma syndrome

R. Wegner, J. Burger, M. Kuklík, 1992, The Lancet.

Dystrophinopathy in a boy with Chediak–Higashi syndrome

R. Cohn, G. Stoltenburg‐Didinger, A. Moers, 1997, Neuromuscular Disorders.

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.

K. Sperling, A. Reis, J. Kunze, 1996, American journal of medical genetics.

Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14

P. Wieacker, M. Volleth, M. Stumm, 2004, Cytogenetic and Genome Research.

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

A. Reis, J. Hazan, N. Fonknechten, 2000, European Journal of Human Genetics.

A unique form of autosomal dominant cataract explained by gene conversion between β-crystallin B2 and its pseudogene

K. Sperling, A. Reis, V. Sarhadi, 2001, Journal of medical genetics.

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

T. Strom, J. Beygo, K. Buiting, 2019, European Journal of Human Genetics.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

K. K. Yong, N. Risch, Hua Tang, 2003, Nature Genetics.

Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.

M. Macek, A. Reis, J. Bürger, 1992, American journal of human genetics.

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

B. Horsthemke, G. Gillessen‐kaesbach, L. Maldergem, 2001, European Journal of Human Genetics.

Trio exome sequencing is highly relevant in prenatal diagnostics

M. Wüstemann, S. Biskup, E. Schwaibold, 2021, Prenatal diagnosis.

Problems in detecting mosaic DNA methylation in Angelman syndrome

B. Janssen, B. Dworniczak, B. Horsthemke, 2003, European Journal of Human Genetics.

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family

A. Reis, J. Hazan, C. Paternotte, 1996, Human Genetics.

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

T. Strom, J. Beygo, K. Buiting, 2019, European Journal of Human Genetics.

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

M. Corey, L. Tsui, T. Dörk, 1992, American journal of human genetics.