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Uta Francke

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Uta Francke; Amy K Kiefer; Bianca Moiseff; Cheri Dijamco; Nicholas Eriksson; Joyce Y Tung; Joanna L Mountain
Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.
Craig J Goergen; Hong-Hua Li; Uta Francke; Charles A Taylor
Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.
Feng Ding; Hong Hua Li; Jun Li; Richard Myers; Uta Francke
Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice.

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2013: Uta Francke; Amy K Kiefer; Bianca Moiseff; Cheri Dijamco; Nicholas Eriksson; Joyce Y Tung; Joanna L Mountain
Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.
PeerJ 2013;1():e8.
2011: Craig J Goergen; Hong-Hua Li; Uta Francke; Charles A Taylor
Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.
Journal of vascular research 2011;48(2):119-29.
2010: Feng Ding; Hong Hua Li; Jun Li; Richard Myers; Uta Francke
Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice.
PloS one 2010;5(2):e9402.
2009: Pavel V Belichenko; Elena E Wright; Nadia P Belichenko; Eliezer Masliah; Hong Hua Li; William C. Mobley; Uta Francke
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.
2009: Hong Hua Li; Madhuri Roy; Unsal Kuscuoglu; Corinne M Spencer; Birgit Halm; Katharine C Harrison; Joseph H Bayle; Alessandra Splendore; Feng Ding; Leslie A Meltzer; Elena Wright; Richard Paylor; Karl Deisseroth; Uta Francke
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.
EMBO molecular medicine 2009;1(1):50-65.
2008: Birgitt Schuele; D D Armstrong; H Vogel; A Oviedo; Uta Francke
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: Nadia P Belichenko; Pavel V Belichenko; Hong Hua Li; William C. Mobley; Uta Francke
Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome.
The Journal of comparative neurology 2008;508(1):184-95.
2008: Feng Ding; Hong Hua Li; Shengwen Zhang; Nicola M Solomon; Sally A Camper; Pinchas Cohen; Uta Francke
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.
PloS one 2008;3(3):e1709.
2007: Birgitt Schuele; Hong Hua Li; Claudia Fisch-Kohl; Carolin Purmann; Uta Francke
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.
American journal of human genetics 2007;81(3):492-506.
2007: ChaRandle Jordan; Hong Hua Li; Helen C Kwan; Uta Francke
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.
BMC medical genetics 2007;8():36.
2006: Charandle Jordan; Uta Francke
Ube3a expression is not altered in Mecp2 mutant mice.
Human molecular genetics 2006;15(14):2210-5.
2006: Jinglan Liu; Uta Francke
Identification of cis-regulatory elements for MECP2 expression.
Human molecular genetics 2006;15(11):1769-82.
2006: Joseph R Arron; Monte M Winslow; Alberto Polleri; Ching-Pin Chang; Hai Wu; Xin Gao; Joel R Neilson; Lei Chen; Jeremy J Heit; Seung K Kim; Nobuyuki Yamasaki; Tsuyoshi Miyakawa; Uta Francke; ISabella Graef; Gerald R Crabtree
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.
Nature 2006;441(7093):595-600.
2006: Uta Francke
Mechanisms of disease: neurogenetics of MeCP2 deficiency.
Nature clinical practice. Neurology 2006;2(4):212-21.
2005: Birgitt Schuele; Angelica Oviedo; Kathreen Johnston; Shashidhar Pai; Uta Francke
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: Feng Ding; Yelena Prints; Madhu S Dhar; Dabney K Johnson; Carmen Garnacho-Montero; Robert D Nicholls; Uta Francke
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: Birgitt Schuele; Mohammed Albalwi; Emma L Northrop; David I Francis; Margaret Rowell; Howard R Slater; R J McKinlay Gardner; Uta Francke
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: Erik A Ranheim; Helen C K Kwan; Tannishtha Reya; Yu-Ker Wang; Irving L Weissman; Uta Francke
Frizzled 9 knock-out mice have abnormal B-cell development.
Blood 2005;105(6):2487-94.
2004: Stanley M Gartler; Kartik R Varadarajan; Ping Luo; Theresa K Canfield; Jeff Traynor; Uta Francke; R Scott Hansen
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: Jeff Traynor; Priyanka Agarwal; Laura Lazzeroni; Uta Francke
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.
BMC medical genetics 2002;3():12.
2002: Renata C Gallagher; Birgit Pils; Mohammed Albalwi; Uta Francke
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: Iris Schrijver; Wanguo Liu; Raanan Odom; Thomas Brenn; Peter Oefner; Heinz Furthmayr; Uta Francke
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: Iris Schrijver; Wouter I Schievink; Maurice Godfrey; Fredric B Meyer; Uta Francke
Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy.
Journal of neurosurgery 2002;96(3):483-9.
2001: S S Lee; M Wan; Uta Francke
Spectrum of MECP2 mutations in Rett syndrome.
Brain & development 2001;23 Suppl 1():S138-43.
2001: Alison M Kerr; Y Nomura; D Armstrong; M Anvret; P V Belichenko; Sarojini S Budden; Hilary Cass; John Christodoulou; Angus Clarke; Carolyn Ellaway; Maurizio D'Esposito; Uta Francke; Maj Hulten; Peter O O Julu; Helen Leonard; Sakkubai Naidu; Carolyn Schanen; T Webb; I W Engerstrom; Y Yamashita; M Segawa
Guidelines for reporting clinical features in cases with MECP2 mutations.
Brain & development 2001;23(4):208-11.
2001: ISabella Graef; Julie M Gastier-Foster; Uta Francke; Gerald R Crabtree
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: M Wan; Keji Zhao; S S Lee; Uta Francke
MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.
Human molecular genetics 2001;10(10):1085-92.
2001: S B Fulmer-Smentek; Uta Francke
Association of acetylated histones with paternally expressed genes in the Prader--Willi deletion region.
Human molecular genetics 2001;10(6):645-52.
2001: Uta Francke
The human genome project: implications for the endocrinologist.
Journal of pediatric endocrinology & metabolism : JPEM 2001;14 Suppl 6():1395-408.
2001: W Liu; Iris Schrijver; Thomas Brenn; Heinz Furthmayr; Uta Francke
Multi-exon deletions of the FBN1 gene in Marfan syndrome.
BMC medical genetics 2001;2():11.
2000: T de los Santos; J Schweizer; Christian A Rees; Uta Francke
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: Julie M Gastier-Foster; MA Berg; P Vesterhus; E O Reiter; Uta Francke
Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
Human mutation 2000;16(4):323-33.
2000: PJ Ferguson; S Blanton; Frank T Saulsbury; Marcia McDuffie; V Lemahieu; Julie M Gastier-Foster; Uta Francke; Stephen M Borowitz; James L Sutphen; TE Kelly
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.
American journal of medical genetics 2000;90(5):390-7.
2000: RJ Peoples; Y Franke; Yu-Ker Wang; Luis A Pérez Jurado; T Paperna; M Cisco; Uta Francke
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: Arlan Rosenbloom; Jaime Guevara-Aguirre; Ronald G Rosenfeld; Uta Francke
Growth hormone receptor deficiency in Ecuador.
The Journal of clinical endocrinology and metabolism 1999;84(12):4436-43.
1999: M Wan; S S Lee; X Zhang; I Houwink-Manville; H R Song; R E Amir; Sarojini S Budden; Sakkubai Naidu; J L Pereira; I F Lo; Huda Y Zoghbi; N Carolyn Schanen; Uta Francke
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
American journal of human genetics 1999;65(6):1520-9.
1999: Iris Schrijver; W Liu; Thomas Brenn; Heinz Furthmayr; Uta Francke
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: Yu-Ker Wang; R Spörle; T Paperna; K Schughart; Uta Francke
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: HZ Ring; H Chang; Angele Guilbot; Alexis Brice; Eric LeGuern; Uta Francke
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: J Schweizer; D Zynger; Uta Francke
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: HZ Ring; V Vameghi-Meyers; H Min; JM Nikolic; Douglas L Black; Uta Francke
The mouse Fubp gene maps near the distal end of chromosome 3.
Genomics 1999;56(3):357-8.
1999: HZ Ring; V Vameghi-Meyers; JM Nikolic; H Min; Douglas L Black; Uta Francke
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: Y Franke; RJ Peoples; Uta Francke
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: Luis A Pérez Jurado; Yu-Ker Wang; Uta Francke; Jesús Cruces
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: Uta Francke
Williams-Beuren syndrome: genes and mechanisms.
Human molecular genetics 1999;8(10):1947-54.
1999: V Lemahieu; Julie M Gastier-Foster; Uta Francke
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: T Paperna; RJ Peoples; Yu-Ker Wang; P Kaplan; Uta Francke
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: M Wan; B F Cravatt; HZ Ring; X Zhang; Uta Francke
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: J Wojcik; MA Berg; N Esposito; M E Geffner; N Sakati; E O Reiter; Steven K Dower; Uta Francke; Marie Catherine Postel-Vinay; J Finidori
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: HZ Ring; V Vameghi-Meyers; W Wang; G R Crabtree; Uta Francke
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: Arlan Rosenbloom; Jaime Guevara-Aguirre; MA Berg; Uta Francke
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: Carolyn Schanen; Uta Francke
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: G Heidary; L L Hampton; N Carolyn Schanen; M J Rivkin; B T Darras; James F Battey; Uta Francke
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: M Wan; Uta Francke
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: Barbara Burwinkel; G Miglierini; D E Jenne; D J Gilbert; N G Copeland; N A Jenkins; HZ Ring; Uta Francke; Manfred W Kilimann
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: T Yang; T E Adamson; James L Resnick; SE Leff; Rachel Wevrick; Uta Francke; N A Jenkins; N G Copeland; Camilynn I Brannan
A mouse model for Prader-Willi syndrome imprinting-centre mutations.
Nature genetics 1998;19(1):25-31.
1998: Yasumichi Hitoshi; James B Lorens; S I Kitada; J Fisher; Mark A LaBarge; HZ Ring; Uta Francke; J C Reed; Shigemi Kinoshita; Garry P Nolan
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells.
Immunity 1998;8(4):461-71.
1998: Yu-Ker Wang; Luis A Pérez Jurado; Uta Francke
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: Luis A Pérez Jurado; Yu-Ker Wang; RJ Peoples; Antonio Coloma; Jesús Cruces; Uta Francke
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: RJ Peoples; M J Cisco; P Kaplan; Uta Francke
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: Uta Francke
Imprinted genes in the Prader-Willi deletion.
Novartis Foundation symposium 1998;214():264-75; discussion 275-9.
1997: C Carmeci; DA Thompson; HZ Ring; Uta Francke; Ronald J Weigel
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: N Carolyn Schanen; E J Dahle; F Capozzoli; V A Holm; Huda Y Zoghbi; Uta Francke
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: Heinz Furthmayr; Uta Francke
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: S Hofferbert; N Carolyn Schanen; Sarojini S Budden; Uta Francke
Is Rett syndrome caused by a triplet repeat expansion?
Neuropediatrics 1997;28(3):179-83.
1997: Iris Schrijver; W Liu; Uta Francke
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: Luis A Pérez Jurado; Jesús Argente; V Barrios; Jesús Pozo; María Teresa Muñoz; M Hernández; Uta Francke
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: Yu-Ker Wang; CH Samos; RJ Peoples; Luis A Pérez Jurado; Roel Nusse; Uta Francke
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: J Shang; X Li; HZ Ring; David A Clayton; Uta Francke
Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft).
Genomics 1997;40(1):108-13.
1997: Rachel Wevrick; Uta Francke
An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.
Human molecular genetics 1997;6(2):325-32.
1997: Y D Zhou; M Barnard; H Tian; Xiumin Li; HZ Ring; Uta Francke; John Shelton; J Richardson; David W Russell; Steven L McKnight
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: L Li; X Li; Uta Francke; Stanley N Cohen
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: W O Liu; P J Oefner; C Qian; R S Odom; Uta Francke
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.
1997: S Hofferbert; N Carolyn Schanen; F Chehab; Uta Francke
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.
1996: R Wevrick; Uta Francke
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood.
Lancet 1996;348(9034):1068-9.
1996: J Giacalone; X Li; H Lehrach; Uta Francke
High-density radiation hybrid map of human chromosome 18 and contig of 18p.
Genomics 1996;37(1):9-18.
1996: W Liu; C Qian; K Comeau; T Brenn; Heinz Furthmayr; Uta Francke
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: Luis A Pérez Jurado; RJ Peoples; P Kaplan; B C Hamel; Uta Francke
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: T Brenn; T Aoyama; Uta Francke; Heinz Furthmayr
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: RJ Peoples; L Perez-Jurado; Yu-Ker Wang; P Kaplan; Uta Francke
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: Marc Symons; J M Derry; B Karlak; S Jiang; V Lemahieu; F Mccormick; Uta Francke; A Abo
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.
Cell 1996;84(5):723-34.
1996: R Wevrick; J A Kerns; Uta Francke
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: J M Derry; J A Kerns; Uta Francke
RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain.
Human molecular genetics 1995;4(12):2307-11.
1995: J M Derry; U Jess; Uta Francke
Cloning and characterization of a novel zinc finger gene in Xp11.2.
Genomics 1995;30(2):361-5.
1995: J M Derry; P Wiedemann; P Blair; Y Wang; J A Kerns; V Lemahieu; Virginia L Godfrey; John Wilkinson; Uta Francke
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: S O Sampaio; X Li; M Takeuchi; C Mei; Uta Francke; Eugene C Butcher; Michael Briskin
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: T Aoyama; Uta Francke; C Gasner; Heinz Furthmayr
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
American journal of medical genetics 1995;58(2):169-76.
1995: S N Ho; D J Thomas; Luika Timmerman; X Li; Uta Francke; Gerald R Crabtree
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: X Li; J Luna; P J Lombroso; Uta Francke
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: J M Derry; J A Kerns; K I Weinberg; H D Ochs; V Volpini; X Estivill; A P Walker; Uta Francke
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Human molecular genetics 1995;4(7):1127-35.
1995: Arlan Rosenbloom; M A Berg; E P Kasatkina; T N Volkova; V F Skorobogatova; V N Sokolovskaya; Uta Francke
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: Uta Francke; M A Berg; K Tynan; T Brenn; W Liu; T Aoyama; C Gasner; D C Miller; Heinz Furthmayr
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: Juliette H Faraco; M Bashir; J Rosenbloom; Uta Francke
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: Uta Francke
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: X Li; S N Ho; J Luna; J Giacalone; D J Thomas; Luika Timmerman; Gerald R Crabtree; Uta Francke
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: Luis A Pérez Jurado; X Li; Uta Francke
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: R Peoples; A Milatovich; Uta Francke
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: X Li; T W Rosahl; Thomas C Südhof; Uta Francke
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: X Li; Uta Francke
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: R Wevrick; J A Kerns; Uta Francke
Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.
Human molecular genetics 1994;3(10):1877-82.
1994: T Aoyama; Uta Francke; Harry C Dietz; Heinz Furthmayr
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: A Milatovich; R G Qiu; Rudolf Grosschedl; Uta Francke
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: M A Berg; R Peoples; Luis A Pérez Jurado; Jaime Guevara-Aguirre; Arlan Rosenbloom; Z Laron; R D Milner; Uta Francke
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: Luis A Pérez Jurado; J A Phillips; Uta Francke
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: A Milatovich; G Bolger; T Michaeli; Uta Francke
Chromosome localizations of genes for five cAMP-specific phosphodiesterases in man and mouse.
Somatic cell and molecular genetics 1994;20(2):75-86.
1994: J Giacalone; Uta Francke
Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12.
Human molecular genetics 1994;3(2):379.
1994: K K Wilgenbus; C L Hsieh; W T Lankes; A Milatovich; Uta Francke; Heinz Furthmayr
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: E Chang; J Luna; J Giacalone; D Uyar; Gary A Silverman; Uta Francke
Regional localization of 56 new human chromosome 18-specific yeast artificial chromosomes.
Cytogenetics and cell genetics 1994;65(1-2):136-9.
1994: X Li; Paul X Nghiem; H Schulman; Uta Francke
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: Uta Francke
Digitized and differentially shaded human chromosome ideograms for genomic applications.
Cytogenetics and cell genetics 1994;65(3):206-18.
1994: Uta Francke; E Chang; K Comeau; E M Geigl; J Giacalone; X Li; J Luna; A Moon; S Welch; P Wilgenbus
A radiation hybrid map of human chromosome 18.
Cytogenetics and cell genetics 1994;66(3):196-213.
1993: X Li; L Pereira; H Zhang; C Sanguineti; Francesco Ramirez; J Bonadio; Uta Francke
Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.
Genomics 1993;18(3):667-72.
1993: T Aoyama; K Tynan; Harry C Dietz; Uta Francke; Heinz Furthmayr
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.
Human molecular genetics 1993;2(12):2135-40.
1993: D J Van Den Berg; Uta Francke
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: K Tynan; K Comeau; M Pearson; P Wilgenbus; D Levitt; C Gasner; M A Berg; D C Miller; Uta Francke
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: A Milatovich; T Kitamura; A Miyajima; Uta Francke
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: O Ibraghimov-Beskrovnaya; A Milatovich; T Ozcelik; B Yang; K Koepnick; Uta Francke; Kevin P Campbell
Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization.
Human molecular genetics 1993;2(10):1651-7.
1993: Uta Francke; M A Berg
Genetic heterogeneity in Laron syndrome.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1993;82 Suppl 391():3-7; discussion 8.
1993: E Chang; S Welch; J Luna; J Giacalone; Uta Francke
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: D J Van den Berg; Uta Francke
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: Luis A Pérez Jurado; Uta Francke
Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene.
Human molecular genetics 1993;2(6):827.
1993: M A Berg; Jesús Argente; Steven D Chernausek; R Gracia; Jaime Guevara-Aguirre; M Hopp; Luis A Pérez Jurado; A Rosenbloom; sergio toledo; Uta Francke
Diverse growth hormone receptor gene mutations in Laron syndrome.
American journal of human genetics 1993;52(5):998-1005.
1993: A Milatovich; D B Mendel; Gerald R Crabtree; Uta Francke
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: K K Wilgenbus; A Milatovich; Uta Francke; Heinz Furthmayr
Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes.
Genomics 1993;16(1):199-206.
1993: J Morrissey; D C Tkachuk; A Milatovich; Uta Francke; M Link; Michael L Cleary
A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias.
Blood 1993;81(5):1124-31.
1993: Uta Francke; Heinz Furthmayr
Genes and gene products involved in Marfan syndrome.
Seminars in thoracic and cardiovascular surgery 1993;5(1):3-10.
1992: T Ozçelik; S Leff; W Robinson; T Donlon; M Lalande; E Sanjines; A Schinzel; Uta Francke
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
Nature genetics 1992;2(4):265-9.
1992: S E Leff; Camilynn I Brannan; M L Reed; T Ozçelik; Uta Francke; Neal G Copeland; Nancy A Jenkins
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: A Milatovich; C L Hsieh; G Bonaminio; Laurence H Tecott; D Julius; Uta Francke
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: E Arnaudo; Michio Hirano; R S Seelan; A Milatovich; C L Hsieh; G M Fabrizi; Lawrence I Grossman; Uta Francke; Eric A Schon
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: F Rupp; T Ozçelik; M Linial; K Peterson; Uta Francke; Richard H Scheller
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: T Ozçelik; M H Porteus; John L R Rubenstein; Uta Francke
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: S K Welch; Uta Francke
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: A Milatovich; Uta Francke
Human cyclin B1 gene (CCNB1) assigned to chromosome 5 (q13-qter).
Somatic cell and molecular genetics 1992;18(3):303-7.
1992: J Giacalone; J Friedes; Uta Francke
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: J P Giacalone; Uta Francke
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: Ueli Suter; Andrew A Welcher; T Ozcelik; G Jackson Snipes; Bela Kosaras; Uta Francke; Susan Billings-Gagliardi; Richard Sidman; Eric M Shooter
Trembler mouse carries a point mutation in a myelin gene.
Nature 1992;356(6366):241-4.
1992: Uta Francke; C L Hsieh; D Kelly; E Lai; Brian Popko
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: M A Berg; Jaime Guevara-Aguirre; Arlan Rosenbloom; Ronald G Rosenfeld; Uta Francke
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: A Milatovich; A Travis; Rudolf Grosschedl; Uta Francke
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: E P Jenkins; C L Hsieh; A Milatovich; K Normington; berman david; Uta Francke; David W Russell
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: A Milatovich; K Song; R A Heller; Uta Francke
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: M L Andria; C L Hsieh; R Oren; Uta Francke; Shoshana Levy
Genomic organization and chromosomal localization of the TAPA-1 gene.
Journal of immunology (Baltimore, Md. : 1950) 1991;147(3):1030-6.
1991: T Ozçelik; A Rosenthal; Uta Francke
Chromosomal mapping of brain-derived neurotrophic factor and neurotrophin-3 genes in man and mouse.
Genomics 1991;10(3):569-75.
1991: M S Perin; P A Johnston; T Ozcelik; Reinhard Jahn; Uta Francke; Thomas C Südhof
Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans.
The Journal of biological chemistry 1991;266(1):615-22.
1991: C L Hsieh; S Navankasattusas; J A Escobedo; L T Williams; Uta Francke
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: C J Kuo; P B Conley; C L Hsieh; Uta Francke; Gerald R Crabtree
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: C L Hsieh; A M Bowcock; Lindsay A Farrer; J M Hebert; K N Huang; L L Cavalli-Sforza; D Julius; Uta Francke
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: B T Archer; T Ozçelik; Reinhard Jahn; Uta Francke; Thomas C Südhof
Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2.
The Journal of biological chemistry 1990;265(28):17267-73.
1990: Uta Francke; C L Hsieh; B E Foellmer; K J Lomax; Harry L Malech; Thomas L Leto
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: T Ozçelik; R G Lafreniere; B T Archer; P A Johnston; H F Willard; Uta Francke; Thomas C Südhof
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: J A Affholter; C L Hsieh; Uta Francke; Richard A Roth
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: Uta Francke; H D Ochs; B T Darras; Anand Swaroop
Origin of mutations in two families with X-linked chronic granulomatous disease.
Blood 1990;76(3):602-6.
1990: C L Hsieh; Anand Swaroop; Uta Francke
Chromosomal localization and cDNA sequence of human ralB, a GTP binding protein.
Somatic cell and molecular genetics 1990;16(4):407-10.
1990: C L Hsieh; A Cheng-Deutsch; S Gloor; M Schachner; Uta Francke
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: C L Hsieh; T A Donlon; B T Darras; D D Chang; J N Topper; David A Clayton; Uta Francke
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: C L Hsieh; U S Vogel; R A Dixon; Uta Francke
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: R Rizzuto; H Nakase; B Darras; Uta Francke; G M Fabrizi; T Mengel; F Walsh; B Kadenbach; Salvatore DiMauro; Eric A Schon
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: Armand F Miranda; Uta Francke; Eduardo Bonilla; G Martucci; B Schmidt; G Salviati; M Rubin
Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy.
American journal of medical genetics 1989;32(2):268-73.