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Uta Francke

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Co-Publications
Name
13
Furthmayr, Heinz
12
Pérez Jurado, Luis
10
Ring, HZ
9
Wang, Yu-Ker
8
Peoples, RJ
6
Crabtree, Gerald
5
Guevara-Aguirre, Jaime
5
Rosenbloom, Arlan
5
Schrijver, Iris
5
Schanen, Carolyn
4
Schüle, Birgitt
4
Südhof, Thomas
4
Gastier, JM
3
Berg, MA
3
Budden, SS

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Publications

TOP 3
Belichenko Pavel V; Wright Elena E; Belichenko Nadia P; Masliah Eliezer; Li Hong Hua; Mobley William C; Francke Uta
Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks.
Schüle B; Armstrong D D; Vogel H; Oviedo A; Francke U
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
Belichenko Nadia P; Belichenko Pavel V; Li Hong Hua; Mobley William C; Francke Uta
Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome.

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All Publications

2009: Belichenko Pavel V; Wright Elena E; Belichenko Nadia P; Masliah Eliezer; Li Hong Hua; Mobley William C; Francke Uta
Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks.
The Journal of comparative neurology 2009;514(3):240-58.
2008: Schüle B; Armstrong D D; Vogel H; Oviedo A; Francke U
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
Clinical genetics 2008;74(2):116-26.
2008: Belichenko Nadia P; Belichenko Pavel V; Li Hong Hua; Mobley William C; Francke Uta
Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome.
The Journal of comparative neurology 2008;508(1):184-95.
2008: Ding Feng; Li Hong Hua; Zhang Shengwen; Solomon Nicola M; Camper Sally A; Cohen Pinchas; Francke Uta
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.
PloS one 2008;3(3):e1709.
2007: Schüle Birgitt; Li Hong Hua; Fisch-Kohl Claudia; Purmann Carolin; Francke Uta
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.
American journal of human genetics 2007;81(3):492-506.
2007: Jordan ChaRandle; Li Hong Hua; Kwan Helen C; Francke Uta
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.
BMC medical genetics 2007;8():36.
2006: Jordan Charandle; Francke Uta
Ube3a expression is not altered in Mecp2 mutant mice.
Human molecular genetics 2006;15(14):2210-5.
2006: Liu Jinglan; Francke Uta
Identification of cis-regulatory elements for MECP2 expression.
Human molecular genetics 2006;15(11):1769-82.
2006: Arron Joseph R; Winslow Monte M; Polleri Alberto; Chang Ching-Pin; Wu Hai; Gao Xin; Neilson Joel R; Chen Lei; Heit Jeremy J; Kim Seung K; Yamasaki Nobuyuki; Miyakawa Tsuyoshi; Francke Uta; Graef Isabella A; Crabtree Gerald R
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.
Nature 2006;441(7093):595-600.
2006: Francke Uta
Mechanisms of disease: neurogenetics of MeCP2 deficiency.
Nature clinical practice. Neurology 2006;2(4):212-21.
2005: Schüle Birgitt; Oviedo Angelica; Johnston Kathreen; Pai Shashidhar; Francke Uta
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
American journal of human genetics 2005;77(6):1117-28.
2005: Ding Feng; Prints Yelena; Dhar Madhu S; Johnson Dabney K; Garnacho-Montero Carmen; Nicholls Robert D; Francke Uta
Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models.
Mammalian genome : official journal of the International Mammalian Genome Society 2005;16(6):424-31.
2005: Schüle Birgitt; Albalwi Mohammed; Northrop Emma; Francis David I; Rowell Margaret; Slater Howard R; Gardner R J McKinlay; Francke Uta
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.
BMC medical genetics 2005;6():18.
2005: Ranheim Erik A; Kwan Helen C K; Reya Tannishtha; Wang Yu-Ker; Weissman Irving L; Francke Uta
Frizzled 9 knock-out mice have abnormal B-cell development.
Blood 2005;105(6):2487-94.
2004: Gartler Stanley M; Varadarajan Kartik R; Luo Ping; Canfield Theresa K; Traynor Jeff; Francke Uta; Hansen R Scott
Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins.
BMC biology 2004;2():21.
2002: Traynor Jeff; Agarwal Priyanka; Lazzeroni Laura; Francke Uta
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.
BMC medical genetics 2002;3():12.
2002: Gallagher Renata C; Pils Birgit; Albalwi Mohammed; Francke Uta
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.
American journal of human genetics 2002;71(3):669-78.
2002: Schrijver Iris; Liu Wanguo; Odom Raanan; Brenn Thomas; Oefner Peter; Furthmayr Heinz; Francke Uta
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.
American journal of human genetics 2002;71(2):223-37.
2002: Schrijver Iris; Schievink Wouter I; Godfrey Maurice; Meyer Fredric B; Francke Uta
Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy.
Journal of neurosurgery 2002;96(3):483-9.
2001: Lee S S; Wan M; Francke U
Spectrum of MECP2 mutations in Rett syndrome.
Brain & development 2001;23 Suppl 1():S138-43.
2001: Kerr A M; Nomura Y; Armstrong D; Anvret M; Belichenko P V; Budden S; Cass H; Christodoulou J; Clarke A; Ellaway C; d'Esposito M; Francke U; Hulten M; Julu P; Leonard H; Naidu S; Schanen C; Webb T; Engerstrom I W; Yamashita Y; Segawa M
Guidelines for reporting clinical features in cases with MECP2 mutations.
Brain & development 2001;23(4):208-11.
2001: Graef I A; Gastier J M; Francke U; Crabtree G R
Evolutionary relationships among Rel domains indicate functional diversification by recombination.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(10):5740-5.
2001: Wan M; Zhao K; Lee S S; Francke U
MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.
Human molecular genetics 2001;10(10):1085-92.
2001: Fulmer-Smentek S B; Francke U
Association of acetylated histones with paternally expressed genes in the Prader--Willi deletion region.
Human molecular genetics 2001;10(6):645-52.
2001: Francke U
The human genome project: implications for the endocrinologist.
Journal of pediatric endocrinology & metabolism : JPEM 2001;14 Suppl 6():1395-408.
2001: Liu W; Schrijver I; Brenn T; Furthmayr H; Francke U
Multi-exon deletions of the FBN1 gene in Marfan syndrome.
BMC medical genetics 2001;2():11.
2000: de los Santos T; Schweizer J; Rees C A; Francke U
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.
American journal of human genetics 2000;67(5):1067-82.
2000: Gastier J M; Berg M A; Vesterhus P; Reiter E O; Francke U
Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
Human mutation 2000;16(4):323-33.
2000: Ferguson P J; Blanton S H; Saulsbury F T; McDuffie M J; Lemahieu V; Gastier J M; Francke U; Borowitz S M; Sutphen J L; Kelly T E
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.
American journal of medical genetics 2000;90(5):390-7.
2000: Peoples R; Franke Y; Wang Y K; Pérez-Jurado L; Paperna T; Cisco M; Francke U
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
American journal of human genetics 2000;66(1):47-68.
1999: Rosenbloom A L; Guevara-Aguirre J; Rosenfeld R G; Francke U
Growth hormone receptor deficiency in Ecuador.
The Journal of clinical endocrinology and metabolism 1999;84(12):4436-43.
1999: Wan M; Lee S S; Zhang X; Houwink-Manville I; Song H R; Amir R E; Budden S; Naidu S; Pereira J L; Lo I F; Zoghbi H Y; Schanen N C; Francke U
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
American journal of human genetics 1999;65(6):1520-9.
1999: Schrijver I; Liu W; Brenn T; Furthmayr H; Francke U
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
American journal of human genetics 1999;65(4):1007-20.
1999: Ring H Z; Chang H; Guilbot A; Brice A; LeGuern E; Francke U
The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q.
Human genetics 1999;104(4):326-32.
1999: Wang Y K; Spörle R; Paperna T; Schughart K; Francke U
Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome.
Genomics 1999;57(2):235-48.
1999: Schweizer J; Zynger D; Francke U
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.
Human molecular genetics 1999;8(4):555-66.
1999: Ring H Z; Vameghi-Meyers V; Min H; Nikolic J M; Black D L; Francke U
The mouse Fubp gene maps near the distal end of chromosome 3.
Genomics 1999;56(3):357-8.
1999: Ring H Z; Vameghi-Meyers V; Nikolic J M; Min H; Black D L; Francke U
Mapping of the KHSRP gene to a region of conserved synteny on human chromosome 19p13.3 and mouse chromosome 17.
Genomics 1999;56(3):350-2.
1999: Franke Y; Peoples R J; Francke U
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
Cytogenetics and cell genetics 1999;86(3-4):296-304.
1999: Pérez Jurado L A; Wang Y K; Francke U; Cruces J
TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog.
Cytogenetics and cell genetics 1999;86(3-4):277-84.
1999: Francke U
Williams-Beuren syndrome: genes and mechanisms.
Human molecular genetics 1999;8(10):1947-54.
1999: Lemahieu V; Gastier J M; Francke U
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
Human mutation 1999;14(1):54-66.
1998: Paperna T; Peoples R; Wang Y K; Kaplan P; Francke U
Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.
Genomics 1998;54(3):453-9.
1998: Wan M; Cravatt B F; Ring H Z; Zhang X; Francke U
Conserved chromosomal location and genomic structure of human and mouse fatty-acid amide hydrolase genes and evaluation of clasper as a candidate neurological mutation.
Genomics 1998;54(3):408-14.
1998: Wojcik J; Berg M A; Esposito N; Geffner M E; Sakati N; Reiter E O; Dower S; Francke U; Postel-Vinay M C; Finidori J
Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.
The Journal of clinical endocrinology and metabolism 1998;83(12):4481-9.
1998: Ring H Z; Vameghi-Meyers V; Wang W; Crabtree G R; Francke U
Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome.
Genomics 1998;51(1):140-3.
1998: Rosenbloom A L; Guevara-Aguirre J; Berg M A; Francke U
Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.
The Journal of clinical endocrinology and metabolism 1998;83(7):2373-5.
1998: Schanen C; Francke U
A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.
American journal of human genetics 1998;63(1):267-9.
1998: Heidary G; Hampton L L; Schanen N C; Rivkin M J; Darras B T; Battey J; Francke U
Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome.
American journal of medical genetics 1998;78(2):173-5.
1998: Wan M; Francke U
Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1).
American journal of medical genetics 1998;78(2):169-72.
1998: Burwinkel B; Miglierini G; Jenne D E; Gilbert D J; Copeland N G; Jenkins N A; Ring H Z; Francke U; Kilimann M W
Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice.
Genomics 1998;49(3):462-6.
1998: Yang T; Adamson T E; Resnick J L; Leff S; Wevrick R; Francke U; Jenkins N A; Copeland N G; Brannan C I
A mouse model for Prader-Willi syndrome imprinting-centre mutations.
Nature genetics 1998;19(1):25-31.
1998: Hitoshi Y; Lorens J; Kitada S I; Fisher J; LaBarge M; Ring H Z; Francke U; Reed J C; Kinoshita S; Nolan G P
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells.
Immunity 1998;8(4):461-71.
1998: Wang Y K; Pérez-Jurado L A; Francke U
A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region.
Genomics 1998;48(2):163-70.
1998: Pérez Jurado L A; Wang Y K; Peoples R; Coloma A; Cruces J; Francke U
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
Human molecular genetics 1998;7(3):325-34.
1998: Peoples R J; Cisco M J; Kaplan P; Francke U
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.
Cytogenetics and cell genetics 1998;82(3-4):238-46.
1998: Francke U
Imprinted genes in the Prader-Willi deletion.
Novartis Foundation symposium 1998;214():264-75; discussion 275-9.
1997: Carmeci C; Thompson D A; Ring H Z; Francke U; Weigel R J
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer.
Genomics 1997;45(3):607-17.
1997: Schanen N C; Dahle E J; Capozzoli F; Holm V A; Zoghbi H Y; Francke U
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
American journal of human genetics 1997;61(3):634-41.
1997: Furthmayr H; Francke U
Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.
Seminars in thoracic and cardiovascular surgery 1997;9(3):191-205.
1997: Hofferbert S; Schanen N C; Budden S S; Francke U
Is Rett syndrome caused by a triplet repeat expansion?
Neuropediatrics 1997;28(3):179-83.
1997: Schrijver I; Liu W; Francke U
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
Human genetics 1997;99(5):607-11.
1997: Pérez Jurado L A; Argente J; Barrios V; Pozo J; Muñoz M T; Hernández M; Francke U
Molecular diagnosis and endocrine evaluation of a patient with a homozygous 7.0 kb deletion of the growth hormone (GH) gene cluster: response to biosynthetic GH therapy.
Journal of pediatric endocrinology & metabolism : JPEM 1997;10(2):185-90.
1997: Wang Y K; Samos C H; Peoples R; Pérez-Jurado L A; Nusse R; Francke U
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23.
Human molecular genetics 1997;6(3):465-72.
1997: Shang J; Li X; Ring H Z; Clayton D A; Francke U
Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft).
Genomics 1997;40(1):108-13.
1997: Wevrick R; Francke U
An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.
Human molecular genetics 1997;6(2):325-32.
1997: Li L; Li X; Francke U; Cohen S N
The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer.
Cell 1997;88(1):143-54.
1997: Zhou Y D; Barnard M; Tian H; Li X; Ring H Z; Francke U; Shelton J; Richardson J; Russell D W; McKnight S L
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(2):713-8.
1997: Hofferbert S; Schanen N C; Chehab F; Francke U
Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method.
Human molecular genetics 1997;6(1):77-83.
1997: Liu W O; Oefner P J; Qian C; Odom R S; Francke U
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
Genetic testing 1997;1(4):237-42.
1996: Giacalone J; Li X; Lehrach H; Francke U
High-density radiation hybrid map of human chromosome 18 and contig of 18p.
Genomics 1996;37(1):9-18.
1996: Liu W; Qian C; Comeau K; Brenn T; Furthmayr H; Francke U
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.
Human molecular genetics 1996;5(10):1581-7.
1996: Wevrick R; Francke U
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood.
Lancet 1996;348(9034):1068-9.
1996: Pérez Jurado L A; Peoples R; Kaplan P; Hamel B C; Francke U
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
American journal of human genetics 1996;59(4):781-92.
1996: Brenn T; Aoyama T; Francke U; Furthmayr H
Dermal fibroblast culture as a model system for studies of fibrillin assembly and pathogenetic mechanisms: defects in distinct groups of individuals with Marfan's syndrome.
Laboratory investigation; a journal of technical methods and pathology 1996;75(3):389-402.
1996: Peoples R; Perez-Jurado L; Wang Y K; Kaplan P; Francke U
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.
American journal of human genetics 1996;58(6):1370-3.
1996: Symons M; Derry J M; Karlak B; Jiang S; Lemahieu V; Mccormick F; Francke U; Abo A
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.
Cell 1996;84(5):723-34.
1996: Wevrick R; Kerns J A; Francke U
The IPW gene is imprinted and is not expressed in the Prader-Willi syndrome.
Acta geneticae medicae et gemellologiae 1996;45(1-2):191-7.
1995: Derry J M; Kerns J A; Francke U
RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain.
Human molecular genetics 1995;4(12):2307-11.
1995: Derry J M; Jess U; Francke U
Cloning and characterization of a novel zinc finger gene in Xp11.2.
Genomics 1995;30(2):361-5.
1995: Derry J M; Wiedemann P; Blair P; Wang Y; Kerns J A; Lemahieu V; Godfrey V L; Wilkinson J E; Francke U
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.
Genomics 1995;29(2):471-7.
1995: Sampaio S O; Li X; Takeuchi M; Mei C; Francke U; Butcher E C; Briskin M J
Organization, regulatory sequences, and alternatively spliced transcripts of the mucosal addressin cell adhesion molecule-1 (MAdCAM-1) gene.
Journal of immunology (Baltimore, Md. : 1950) 1995;155(5):2477-86.
1995: Aoyama T; Francke U; Gasner C; Furthmayr H
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
American journal of medical genetics 1995;58(2):169-76.
1995: Ho S N; Thomas D J; Timmerman L A; Li X; Francke U; Crabtree G R
NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity.
The Journal of biological chemistry 1995;270(34):19898-907.
1995: Li X; Luna J; Lombroso P J; Francke U
Molecular cloning of the human homolog of a striatum-enriched phosphatase (STEP) gene and chromosomal mapping of the human and murine loci.
Genomics 1995;28(3):442-9.
1995: Derry J M; Kerns J A; Weinberg K I; Ochs H D; Volpini V; Estivill X; Walker A P; Francke U
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Human molecular genetics 1995;4(7):1127-35.
1995: Rosenbloom A L; Berg M A; Kasatkina E P; Volkova T N; Skorobogatova V F; Sokolovskaya V N; Francke U
Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia.
Journal of pediatric endocrinology & metabolism : JPEM 1995;8(3):159-65.
1995: Francke U; Berg M A; Tynan K; Brenn T; Liu W; Aoyama T; Gasner C; Miller D C; Furthmayr H
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
American journal of human genetics 1995;56(6):1287-96.
1995: Faraco J; Bashir M; Rosenbloom J; Francke U
Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170.
Genomics 1995;25(3):630-7.
1995: Francke U
Clinical and molecular cytogenetics and gene mapping: principles and techniques.
The Southeast Asian journal of tropical medicine and public health 1995;26 Suppl 1():34-43.
1995: Li X; Ho S N; Luna J; Giacalone J; Thomas D J; Timmerman L A; Crabtree G R; Francke U
Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp.
Cytogenetics and cell genetics 1995;68(3-4):185-91.
1995: Pérez Jurado L A; Li X; Francke U
The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome.
Cytogenetics and cell genetics 1995;70(3-4):246-9.
1995: Peoples R; Milatovich A; Francke U
Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome.
Cytogenetics and cell genetics 1995;70(3-4):228-34.
1995: Li X; Rosahl T W; Südhof T C; Francke U
Mapping of synapsin II (SYN2) genes to human chromosome 3p and mouse chromosome 6 band F.
Cytogenetics and cell genetics 1995;71(3):301-5.
1995: Li X; Francke U
Assignment of the gene SLC1A2 coding for the human glutamate transporter EAAT2 to human chromosome 11 bands p13-p12.
Cytogenetics and cell genetics 1995;71(3):212-3.
1994: Wevrick R; Kerns J A; Francke U
Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.
Human molecular genetics 1994;3(10):1877-82.
1994: Aoyama T; Francke U; Dietz H C; Furthmayr H
Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.
The Journal of clinical investigation 1994;94(1):130-7.
1994: Milatovich A; Qiu R G; Grosschedl R; Francke U
Gene for a tissue-specific transcriptional activator (EBF or Olf-1), expressed in early B lymphocytes, adipocytes, and olfactory neurons, is located on human chromosome 5, band q34, and proximal mouse chromosome 11.
Mammalian genome : official journal of the International Mammalian Genome Society 1994;5(4):211-5.
1994: Berg M A; Peoples R; Pérez-Jurado L; Guevara-Aguirre J; Rosenbloom A L; Laron Z; Milner R D; Francke U
Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1994;399():112-4.
1994: Pérez Jurado L A; Phillips J A; Francke U
Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis.
The Journal of clinical endocrinology and metabolism 1994;78(3):622-8.
1994: Milatovich A; Bolger G; Michaeli T; Francke U
Chromosome localizations of genes for five cAMP-specific phosphodiesterases in man and mouse.
Somatic cell and molecular genetics 1994;20(2):75-86.
1994: Giacalone J; Francke U
Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12.
Human molecular genetics 1994;3(2):379.
1994: Wilgenbus K K; Hsieh C L; Lankes W T; Milatovich A; Francke U; Furthmayr H
Structure and localization on the X chromosome of the gene coding for the human filopodial protein moesin (MSN).
Genomics 1994;19(2):326-33.
1994: Chang E; Luna J; Giacalone J; Uyar D; Silverman G A; Francke U
Regional localization of 56 new human chromosome 18-specific yeast artificial chromosomes.
Cytogenetics and cell genetics 1994;65(1-2):136-9.
1994: Li X; Nghiem P; Schulman H; Francke U
Localization of the CAMKG gene encoding gamma isoforms of multifunctional calcium/calmodulin-dependent protein kinase (CaM kinase) to human chromosome 10 band q22 and mouse chromosome 14.
Cytogenetics and cell genetics 1994;66(2):113-6.
1994: Francke U
Digitized and differentially shaded human chromosome ideograms for genomic applications.
Cytogenetics and cell genetics 1994;65(3):206-18.
1994: Francke U; Chang E; Comeau K; Geigl E M; Giacalone J; Li X; Luna J; Moon A; Welch S; Wilgenbus P
A radiation hybrid map of human chromosome 18.
Cytogenetics and cell genetics 1994;66(3):196-213.
1993: Li X; Pereira L; Zhang H; Sanguineti C; Ramirez F; Bonadio J; Francke U
Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.
Genomics 1993;18(3):667-72.
1993: Aoyama T; Tynan K; Dietz H C; Francke U; Furthmayr H
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.
Human molecular genetics 1993;2(12):2135-40.
1993: Van Den Berg D J; Francke U
Roberts syndrome: a review of 100 cases and a new rating system for severity.
American journal of medical genetics 1993;47(7):1104-23.
1993: Tynan K; Comeau K; Pearson M; Wilgenbus P; Levitt D; Gasner C; Berg M A; Miller D C; Francke U
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
Human molecular genetics 1993;2(11):1813-21.
1993: Milatovich A; Kitamura T; Miyajima A; Francke U
Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region.
American journal of human genetics 1993;53(5):1146-53.
1993: Ibraghimov-Beskrovnaya O; Milatovich A; Ozcelik T; Yang B; Koepnick K; Francke U; Campbell K P
Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization.
Human molecular genetics 1993;2(10):1651-7.
1993: Francke U; Berg M A
Genetic heterogeneity in Laron syndrome.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1993;82 Suppl 391():3-7; discussion 8.
1993: Chang E; Welch S; Luna J; Giacalone J; Francke U
Generation of a human chromosome 18-specific YAC clone collection and mapping of 55 unique YACs by FISH and fingerprinting.
Genomics 1993;17(2):393-402.
1993: Van den Berg D J; Francke U
Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors.
Somatic cell and molecular genetics 1993;19(4):377-92.
1993: Pérez-Jurado L A; Francke U
Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene.
Human molecular genetics 1993;2(6):827.
1993: Berg M A; Argente J; Chernausek S; Gracia R; Guevara-Aguirre J; Hopp M; Pérez-Jurado L; Rosenbloom A; Toledo S P; Francke U
Diverse growth hormone receptor gene mutations in Laron syndrome.
American journal of human genetics 1993;52(5):998-1005.
1993: Milatovich A; Mendel D B; Crabtree G R; Francke U
Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10.
Genomics 1993;16(1):292-5.
1993: Wilgenbus K K; Milatovich A; Francke U; Furthmayr H
Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes.
Genomics 1993;16(1):199-206.
1993: Morrissey J; Tkachuk D C; Milatovich A; Francke U; Link M; Cleary M L
A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias.
Blood 1993;81(5):1124-31.
1993: Francke U; Furthmayr H
Genes and gene products involved in Marfan syndrome.
Seminars in thoracic and cardiovascular surgery 1993;5(1):3-10.
1992: Ozçelik T; Leff S; Robinson W; Donlon T; Lalande M; Sanjines E; Schinzel A; Francke U
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
Nature genetics 1992;2(4):265-9.
1992: Leff S E; Brannan C I; Reed M L; Ozçelik T; Francke U; Copeland N G; Jenkins N A
Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region.
Nature genetics 1992;2(4):259-64.
1992: Milatovich A; Hsieh C L; Bonaminio G; Tecott L; Julius D; Francke U
Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4).
Human molecular genetics 1992;1(9):681-4.
1992: Arnaudo E; Hirano M; Seelan R S; Milatovich A; Hsieh C L; Fabrizi G M; Grossman L I; Francke U; Schon E A
Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase.
Gene 1992;119(2):299-305.
1992: Rupp F; Ozçelik T; Linial M; Peterson K; Francke U; Scheller R
Structure and chromosomal localization of the mammalian agrin gene.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1992;12(9):3535-44.
1992: Ozçelik T; Porteus M H; Rubenstein J L; Francke U
DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2.
Genomics 1992;13(4):1157-61.
1992: Welch S K; Francke U
Assignment of the human alpha 2-plasmin inhibitor gene (PLI) to chromosome 17, region pter-p12, by PCR analysis of somatic cell hybrids.
Genomics 1992;13(1):213-4.
1992: Milatovich A; Francke U
Human cyclin B1 gene (CCNB1) assigned to chromosome 5 (q13-qter).
Somatic cell and molecular genetics 1992;18(3):303-7.
1992: Giacalone J; Friedes J; Francke U
A novel GC-rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes.
Nature genetics 1992;1(2):137-43.
1992: Giacalone J P; Francke U
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.
American journal of human genetics 1992;50(4):725-41.
1992: Suter U; Welcher A A; Ozcelik T; Snipes G J; Kosaras B; Francke U; Billings-Gagliardi S; Sidman R L; Shooter E M
Trembler mouse carries a point mutation in a myelin gene.
Nature 1992;356(6366):241-4.
1992: Francke U; Hsieh C L; Kelly D; Lai E; Popko B
Induced reciprocal translocation in transgenic mice near sites of transgene integration.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(4):209-16.
1992: Berg M A; Guevara-Aguirre J; Rosenbloom A L; Rosenfeld R G; Francke U
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.
Human mutation 1992;1(1):24-32.
1991: Milatovich A; Travis A; Grosschedl R; Francke U
Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human chromosome 4 (q23-q25) and mouse chromosome 3 near Egf.
Genomics 1991;11(4):1040-8.
1991: Jenkins E P; Hsieh C L; Milatovich A; Normington K; Berman D M; Francke U; Russell D W
Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue.
Genomics 1991;11(4):1102-12.
1991: Milatovich A; Song K; Heller R A; Francke U
Tumor necrosis factor receptor genes, TNFR1 and TNFR2, on human chromosomes 12 and 1.
Somatic cell and molecular genetics 1991;17(5):519-23.
1991: Andria M L; Hsieh C L; Oren R; Francke U; Levy S
Genomic organization and chromosomal localization of the TAPA-1 gene.
Journal of immunology (Baltimore, Md. : 1950) 1991;147(3):1030-6.
1991: Ozçelik T; Rosenthal A; Francke U
Chromosomal mapping of brain-derived neurotrophic factor and neurotrophin-3 genes in man and mouse.
Genomics 1991;10(3):569-75.
1991: Perin M S; Johnston P A; Ozcelik T; Jahn R; Francke U; Südhof T C
Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans.
The Journal of biological chemistry 1991;266(1):615-22.
1991: Hsieh C L; Navankasattusas S; Escobedo J A; Williams L T; Francke U
Chromosomal localization of the gene for AA-type platelet-derived growth factor receptor (PDGFRA) in humans and mice.
Cytogenetics and cell genetics 1991;56(3-4):160-3.
1990: Kuo C J; Conley P B; Hsieh C L; Francke U; Crabtree G R
Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(24):9838-42.
1990: Hsieh C L; Bowcock A M; Farrer L A; Hebert J M; Huang K N; Cavalli-Sforza L L; Julius D; Francke U
The serotonin receptor subtype 2 locus HTR2 is on human chromosome 13 near genes for esterase D and retinoblastoma-1 and on mouse chromosome 14.
Somatic cell and molecular genetics 1990;16(6):567-74.
1990: Archer B T; Ozçelik T; Jahn R; Francke U; Südhof T C
Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2.
The Journal of biological chemistry 1990;265(28):17267-73.
1990: Francke U; Hsieh C L; Foellmer B E; Lomax K J; Malech H L; Leto T L
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).
American journal of human genetics 1990;47(3):483-92.
1990: Ozçelik T; Lafreniere R G; Archer B T; Johnston P A; Willard H F; Francke U; Südhof T C
Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.
American journal of human genetics 1990;47(3):551-61.
1990: Affholter J A; Hsieh C L; Francke U; Roth R A
Insulin-degrading enzyme: stable expression of the human complementary DNA, characterization of its protein product, and chromosomal mapping of the human and mouse genes.
Molecular endocrinology (Baltimore, Md.) 1990;4(8):1125-35.
1990: Francke U; Ochs H D; Darras B T; Swaroop A
Origin of mutations in two families with X-linked chronic granulomatous disease.
Blood 1990;76(3):602-6.
1990: Hsieh C L; Swaroop A; Francke U
Chromosomal localization and cDNA sequence of human ralB, a GTP binding protein.
Somatic cell and molecular genetics 1990;16(4):407-10.
1990: Hsieh C L; Cheng-Deutsch A; Gloor S; Schachner M; Francke U
Assignment of Amog (adhesion molecule on glia) gene to mouse chromosome 11 near Zfp-3 and Asgr-1,2 and to human chromosome 17.
Somatic cell and molecular genetics 1990;16(4):401-5.
1990: Hsieh C L; Donlon T A; Darras B T; Chang D D; Topper J N; Clayton D A; Francke U
The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4.
Genomics 1990;6(3):540-4.
1989: Hsieh C L; Vogel U S; Dixon R A; Francke U
Chromosome localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP).
Somatic cell and molecular genetics 1989;15(6):579-90.
1989: Rizzuto R; Nakase H; Darras B; Francke U; Fabrizi G M; Mengel T; Walsh F; Kadenbach B; DiMauro S; Schon E A
A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues.
The Journal of biological chemistry 1989;264(18):10595-600.
1989: Miranda A F; Francke U; Bonilla E; Martucci G; Schmidt B; Salviati G; Rubin M
Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy.
American journal of medical genetics 1989;32(2):268-73.

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