Uta Francke

发表

Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region.

U. Francke, A. Miyajima, T. Kitamura, 1993, American journal of human genetics.

Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis.

U. Francke, T. Ozcelik, T. Yang-Feng, 1992, American journal of human genetics.

The serotonin receptor subtype 2 locusHTR2 is on human chromosome 13 near genes for esterase D and retinoblastoma-1 and on mouse chromosome 14

L. Cavalli-Sforza, A. Bowcock, L. Farrer, 1990, Somatic cell and molecular genetics.

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

H. Zoghbi, U. Francke, N. C. Schanen, 1997, American journal of human genetics.

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

U. Francke, R. Miller, B. Darras, 1989, American journal of human genetics.

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

Nicholas Eriksson, Samuel M. Goldman, Chuong B. Do, 2011, PLoS genetics.

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.

U. Francke, D. Miller, P. Wilgenbus, 1993, Human molecular genetics.

Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue.

U. Francke, D. Russell, C. Hsieh, 1991, Genomics.

Cardiovascular manifestations in men and women carrying a FBN1 mutation.

C. Béroud, G. Collod-Béroud, A. De Paepe, 2010, European heart journal.

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

U. Francke, D. Russell, J. Wilson, 1992, The Journal of clinical investigation.

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure

U. Francke, A. Oviedo, B. Schüle, 2008, Clinical genetics.

Chromosomal mapping of brain-derived neurotrophic factor and neurotrophin-3 genes in man and mouse.

A. Rosenthal, U. Francke, T. Ozcelik, 1991, Genomics.

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

M. Brilliant, U. Francke, Y. Nakatsu, 1994, Nature Genetics.

The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome

U. Francke, J. Faraco, Wanguo Liu, 1997, Human Genetics.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

E. Arbustini, U. Francke, C. Béroud, 2009, American journal of medical genetics. Part A.

MARFAN SYNDROME

Uta Francke, 2018, Cassidy and Allanson's Management of Genetic Syndromes.

MARFAN SYNDROME

R. Austin, P. Mathew, S. Devi, 2018, Cassidy and Allanson's Management of Genetic Syndromes.

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.

U. Francke, H. Dietz, T. Aoyama, 1993, Human molecular genetics.

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

C. Disteche, U. Francke, H. Ochs, 1985, American journal of human genetics.

Growth hormone receptor deficiency in Ecuador.

U. Francke, J. Guevara-Aguirre, A. Rosenbloom, 1999, The Journal of clinical endocrinology and metabolism.

Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase.

E. Schon, U. Francke, C. Hsieh, 1992, Gene.

Association of acetylated histones with paternally expressed genes in the Prader--Willi deletion region.

S. Fulmer-Smentek, U. Francke, Uta Francke, 2001, Human molecular genetics.

Distal 2q duplication: report of two familial cases and an attempt to define a syndrome.

K. Zang, G. Dockter, H. Zankl, 1979, American journal of medical genetics.

Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins

T. Canfield, R. Hansen, U. Francke, 2004, BMC Biology.

An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.

U. Francke, R. Wevrick, Uta Francke, 1997, Human molecular genetics.

The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.

T. Meitinger, S. Schuffenhauer, M. Brilliant, 1994, Pigment cell research.

The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.

U. Francke, V. Godfrey, J. Derry, 1995, Genomics.

Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets

ChaRandle Jordan, R. Meadows, H. H. Li, 2007, BMC Medical Genetics.

Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14.

M. Kilimann, Uta Francke, Xu Li, 1995, Human Molecular Genetics.

Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4).

L. Tecott, U. Francke, D. Julius, 1992, Human molecular genetics.

Insulin-degrading enzyme: stable expression of the human complementary DNA, characterization of its protein product, and chromosomal mapping of the human and mouse genes.

U. Francke, C. Hsieh, J. Affholter, 1990, Molecular endocrinology.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

E. Arbustini, U. Francke, C. Béroud, 2009, European Journal of Human Genetics.

Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain.

U. Francke, T. de los Santos, C. Rees, 2000, American journal of human genetics.

Expression of human Wiskott–Aldrich syndrome protein in patients’ cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins

S. Tsuboi, U. Francke, J. Derry, 2000, Gene Therapy.