Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

James Gusella

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.

Research Profile (preview)

Disorders

Procedures

Concepts & Ideas

Chemicals & Drugs

Anatomy

Genes & Molecular Sequences

Physiology

Living Beings

Mice

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
Saydam Okay; Shen Yiping; Würdinger Thomas; Senol Ozlem; Boke Elvan; James Marianne F; Tannous Bakhos A; Stemmer-Rachamimov Anat O; Yi Ming; Stephens Robert M; Fraefel Cornel; Gusella James F; Krichevsky Anna M; Breakefield Xandra O
Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway.
James Marianne F; Han Sangyeul; Polizzano Carolyn; Plotkin Scott R; Manning Brendan D; Stemmer-Rachamimov Anat O; Gusella James F; Ramesh Vijaya
NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth.
Hendricks Audrey E; Latourelle Jeanne C; Lunetta Kathryn L; Cupples L Adrienne; Wheeler Vanessa; Macdonald Marcy E; Gusella James F; Myers Richard H
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of James Gusella (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: Saydam Okay; Shen Yiping; Würdinger Thomas; Senol Ozlem; Boke Elvan; James Marianne F; Tannous Bakhos A; Stemmer-Rachamimov Anat O; Yi Ming; Stephens Robert M; Fraefel Cornel; Gusella James F; Krichevsky Anna M; Breakefield Xandra O
Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway.
Molecular and cellular biology 2009;29(21):5923-40.
2009: James Marianne F; Han Sangyeul; Polizzano Carolyn; Plotkin Scott R; Manning Brendan D; Stemmer-Rachamimov Anat O; Gusella James F; Ramesh Vijaya
NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth.
Molecular and cellular biology 2009;29(15):4250-61.
2009: Hendricks Audrey E; Latourelle Jeanne C; Lunetta Kathryn L; Cupples L Adrienne; Wheeler Vanessa; Macdonald Marcy E; Gusella James F; Myers Richard H
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).
American journal of medical genetics. Part A 2009;149A(7):1375-81.
2009: Pankratz Nathan; Wilk Jemma B; Latourelle Jeanne C; DeStefano Anita L; Halter Cheryl; Pugh Elizabeth W; Doheny Kimberly F; Gusella James F; Nichols William C; Foroud Tatiana; Myers Richard H;
Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
Human genetics 2009;124(6):593-605.
2009: Latourelle Jeanne C; Pankratz Nathan; Dumitriu Alexandra; Wilk Jemma B; Goldwurm Stefano; Pezzoli Gianni; Mariani Claudio B; DeStefano Anita L; Halter Cheryl; Gusella James F; Nichols William C; Myers Richard H; Foroud Tatiana;
Genomewide association study for onset age in Parkinson disease.
BMC medical genetics 2009;10():98.
2009: Gusella James F; Macdonald Marcy E
Huntington's disease: the case for genetic modifiers.
Genome medicine 2009;1(8):80.
2009: Shen Yiping; Nunes Fabio; Stemmer-Rachamimov Anat; James Marianne; Mohapatra Gayatry; Plotkin Scott; Betensky Rebecca A; Engler David A; Roy Jennifer; Ramesh Vijaya; Gusella James F
Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas.
BMC medical genomics 2009;2():42.
2009: LaFemina Jennifer; Roberts Penelope A; Hung Yin P; Gusella James F; Sahani Dushyant; Fernández-del Castillo Carlos; Warshaw Andrew L; Thayer Sarah P
Identification of a novel kindred with familial pancreatitis and pancreatic cancer.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2009;9(3):273-9.
2008: Kim Hyung-Goo; Kurth Ingo; Lan Fei; Meliciani Irene; Wenzel Wolfgang; Eom Soo Hyun; Kang Gil Bu; Rosenberger Georg; Tekin Mustafa; Ozata Metin; Bick David P; Sherins Richard J; Walker Steven L; Shi Yang; Gusella James F; Layman Lawrence C
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
American journal of human genetics 2008;83(4):511-9.
2008: James Marianne F; Lelke Johanna M; Maccollin Mia; Plotkin Scott R; Stemmer-Rachamimov Anat O; Ramesh Vijaya; Gusella James F
Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth.
Neurobiology of disease 2008;29(2):278-92.
2008: Kim Hyung-Goo; Kishikawa Shotaro; Higgins Anne W; Seong Ihn-Sik; Donovan Diana J; Shen Yiping; Lally Eric; Weiss Lauren A; Najm Juliane; Kutsche Kerstin; Descartes Maria; Holt Lynn; Braddock Stephen; Troxell Robin; Kaplan Lee; Volkmar Fred; Klin Ami; Tsatsanis Katherine; Harris David J; Noens Ilse; Pauls David L; Daly Mark J; MacDonald Marcy E; Morton Cynthia C; Quade Bradley J; Gusella James F
Disruption of neurexin 1 associated with autism spectrum disorder.
American journal of human genetics 2008;82(1):199-207.
2007: Gusella James F; MacDonald Marcy E
Expanding the notion of disease in Huntington's disease.
Biological psychiatry 2007;62(12):1340.
2007: Beyer Kim S; Beauchamp Roberta L; Lee Ming-Fen; Gusella James F; Näär Anders M; Ramesh Vijaya
Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation.
The Journal of biological chemistry 2007;282(44):32152-7.
2007: Wheeler V C; Persichetti F; McNeil S M; Mysore J S; Mysore S S; MacDonald M E; Myers R H; Gusella J F; Wexler N S;
Factors associated with HD CAG repeat instability in Huntington disease.
Journal of medical genetics 2007;44(11):695-701.
2007: Hims Matthew M; Shetty Ranjit S; Pickel James; Mull James; Leyne Maire; Liu Lijuan; Gusella James F; Slaugenhaupt Susan A
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Genomics 2007;90(3):389-96.
2007: Lee Jong-Min; Ivanova Elena V; Seong Ihn Sik; Cashorali Tanya; Kohane Isaac; Gusella James F; MacDonald Marcy E
Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.
PLoS genetics 2007;3(8):e135.
2007: Quintero-Rivera Fabiola; Leach Natalia T; de la Chapelle Albert; Gusella James F; Morton Cynthia C; Harris David J
Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?
American journal of medical genetics. Part A 2007;143A(15):1796-8.
2007: Lu Weining; Quintero-Rivera Fabiola; Fan Yanli; Alkuraya Fowzan S; Donovan Diana J; Xi Qiongchao; Turbe-Doan Annick; Li Qing-Gang; Campbell Craig G; Shanske Alan L; Sherr Elliott H; Ahmad Ayesha; Peters Roxana; Rilliet Benedict; Parvex Paloma; Bassuk Alexander G; Harris David J; Ferguson Heather; Kelly Chantal; Walsh Christopher A; Gronostajski Richard M; Devriendt Koenraad; Higgins Anne; Ligon Azra H; Quade Bradley J; Morton Cynthia C; Gusella James F; Maas Richard L
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PLoS genetics 2007;3(5):e80.
2007: Andresen J Michael; Gayán Javier; Djoussé Luc; Roberts Simone; Brocklebank Denise; Cherny Stacey S; Cardon Lon R; Gusella James F; MacDonald Marcy E; Myers Richard H; Housman David E; Wexler Nancy S
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.
Annals of human genetics 2007;71(Pt 3):295-301.
2007: Leach Natalia T; Sun Yi; Michaud Sebastien; Zheng Yi; Ligon Keith L; Ligon Azra H; Sander Thomas; Korf Bruce R; Lu Weining; Harris David J; Gusella James F; Maas Richard L; Quade Bradley J; Cole Andrew J; Kelz Max B; Morton Cynthia C
Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
American journal of human genetics 2007;80(4):792-9.
2007: Lu Weining; van Eerde Albertien M; Fan Xueping; Quintero-Rivera Fabiola; Kulkarni Shashikant; Ferguson Heather; Kim Hyung-Goo; Fan Yanli; Xi Qiongchao; Li Qing-Gang; Sanlaville Damien; Andrews William; Sundaresan Vasi; Bi Weimin; Yan Jiong; Giltay Jacques C; Wijmenga Cisca; de Jong Tom P V M; Feather Sally A; Woolf Adrian S; Rao Yi; Lupski James R; Eccles Michael R; Quade Bradley J; Gusella James F; Morton Cynthia C; Maas Richard L
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
American journal of human genetics 2007;80(4):616-32.
2007: Gusella James F; Macdonald Marcy
Genetic criteria for Huntington's disease pathogenesis.
Brain research bulletin 2007;72(2-3):78-82.
2007: Quintero-Rivera Fabiola; Chan Alicia; Donovan Diana J; Gusella James F; Ligon Azra H
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.
American journal of medical genetics. Part A 2007;143(6):558-63.
2007: Hims Matthew M; Ibrahim El Chérif; Leyne Maire; Mull James; Liu Lijuan; Lazaro Conxi; Shetty Ranjit S; Gill Sandra; Gusella James F; Reed Robin; Slaugenhaupt Susan A
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
Journal of molecular medicine (Berlin, Germany) 2007;85(2):149-61.
2007: Kim Hyung-Goo; Higgins Anne W; Herrick Steven R; Kishikawa Shotaro; Nicholson Linda; Kutsche Kerstin; Ligon Azra H; Harris David J; Macdonald Marcy E; Bruns Gail A P; Morton Cynthia C; Quade Bradley J; Gusella James F
Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
American journal of medical genetics. Part A 2007;143(2):107-11.
2006: Kishikawa Shotaro; Li Jian-Liang; Gillis Tammy; Hakky Michael M; Warby Simon; Hayden Michael; MacDonald Marcy E; Myers Richard H; Gusella James F
Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease.
Neurobiology of disease 2006;24(2):280-5.
2006: Lee Ming-Fen; Beauchamp Roberta L; Beyer Kim S; Gusella James F; Ramesh Vijaya
Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation.
Biochemical and biophysical research communications 2006;348(3):826-31.
2006: Gusella James F; Macdonald Marcy E
Huntington's disease: seeing the pathogenic process through a genetic lens.
Trends in biochemical sciences 2006;31(9):533-40.
2006: Zeng Wenqi; Gillis Tammy; Hakky Michael; Djoussé Luc; Myers Richard H; MacDonald Marcy E; Gusella James F
Genetic analysis of the GRIK2 modifier effect in Huntington's disease.
BMC neuroscience 2006;7():62.
2005: Nunes Fabio; Shen Yiping; Niida Yo; Beauchamp Roberta; Stemmer-Rachamimov Anat O; Ramesh Vijaya; Gusella James; MacCollin Mia
Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.
Cancer genetics and cytogenetics 2005;162(2):135-9.
2005: Seong Ihn Sik; Ivanova Elena; Lee Jong-Min; Choo Yeun Su; Fossale Elisa; Anderson MaryAnne; Gusella James F; Laramie Jason M; Myers Richard H; Lesort Mathieu; MacDonald Marcy E
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
Human molecular genetics 2005;14(19):2871-80.
2005: Kim H G; Herrick S R; Lemyre E; Kishikawa S; Salisz J A; Seminara S; MacDonald M E; Bruns G A P; Morton C C; Quade B J; Gusella J F
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Journal of medical genetics 2005;42(8):666-72.
2005: Zeng Wen-Qi; Al-Yamani Eiman; Acierno James S; Slaugenhaupt Susan; Gillis Tammy; MacDonald Marcy E; Ozand Pinar T; Gusella James F
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
American journal of human genetics 2005;77(1):16-26.
2005: Manchanda Nitasha; Lyubimova Anna; Ho Hsin-Yi Henry; James Marianne F; Gusella James F; Ramesh Narayanaswamy; Snapper Scott B; Ramesh Vijaya
The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function.
The Journal of biological chemistry 2005;280(13):12517-22.
2005: Wang Jin; Gines Silvia; MacDonald Marcy E; Gusella James F
Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation.
BMC neuroscience 2005;6():1.
2004: Wiederhold Thorsten; Lee Ming-Fen; James Marianne; Neujahr Ralph; Smith Nicole; Murthy Anita; Hartwig John; Gusella James F; Ramesh Vijaya
Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2.
Oncogene 2004;23(54):8815-25.
2004: Djoussé Luc; Knowlton Beth; Hayden Michael R; Almqvist Elisabeth W; Brinkman Ryan R; Ross Christopher A; Margolis Russel L; Rosenblatt Adam; Durr Alexandra; Dode Catherine; Morrison Patrick J; Novelletto Andrea; Frontali Marina; Trent Ronald J A; McCusker Elizabeth; Gómez-Tortosa Estrella; Mayo Cabrero David; Jones Randi; Zanko Andrea; Nance Martha; Abramson Ruth K; Suchowersky Oksana; Paulsen Jane S; Harrison Madaline B; Yang Qiong; Cupples L Adrienne; Mysore Jayalakshmi; Gusella James F; MacDonald Marcy E; Myers Richard H
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
Neurogenetics 2004;5(2):109-14.
2004: Slaugenhaupt Susan A; Mull James; Leyne Maire; Cuajungco Math P; Gill Sandra P; Hims Matthew M; Quintero Fabiola; Axelrod Felicia B; Gusella James F
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.
Human molecular genetics 2004;13(4):429-36.
2003: Seminara Stephanie B; Messager Sophie; Chatzidaki Emmanouella E; Thresher Rosemary R; Acierno James S; Shagoury Jenna K; Bo-Abbas Yousef; Kuohung Wendy; Schwinof Kristine M; Hendrick Alan G; Zahn Dirk; Dixon John; Kaiser Ursula B; Slaugenhaupt Susan A; Gusella James F; O'Rahilly Stephen; Carlton Mark B L; Crowley William F; Aparicio Samuel A J R; Colledge William H
The GPR54 gene as a regulator of puberty.
The New England journal of medicine 2003;349(17):1614-27.
2003: Djoussé L; Knowlton B; Hayden M; Almqvist E W; Brinkman R; Ross C; Margolis R; Rosenblatt A; Durr A; Dode C; Morrison P J; Novelletto A; Frontali M; Trent R J A; McCusker E; Gómez-Tortosa E; Mayo D; Jones R; Zanko A; Nance M; Abramson R; Suchowersky O; Paulsen J; Harrison M; Yang Q; Cupples L A; Gusella J F; MacDonald M E; Myers R H
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
American journal of medical genetics. Part A 2003;119A(3):279-82.
2003: Nenguke Taurai; Aladjem Mirit I; Gusella James F; Wexler Nancy S; Arnheim Norman;
Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.
Human molecular genetics 2003;12(9):1021-8.
2003: Leyne Maire; Mull James; Gill Sandra P; Cuajungco Math P; Oddoux Carole; Blumenfeld Anat; Maayan Channa; Gusella James F; Axelrod Felicia B; Slaugenhaupt Susan A
Identification of the first non-Jewish mutation in familial Dysautonomia.
American journal of medical genetics. Part A 2003;118A(4):305-8.
2003: Gines Silvia; Seong Ihn Sik; Fossale Elisa; Ivanova Elena; Trettel Flavia; Gusella James F; Wheeler Vanessa C; Persichetti Francesca; MacDonald Marcy E
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.
Human molecular genetics 2003;12(5):497-508.
2003: Cuajungco Math P; Leyne Maire; Mull James; Gill Sandra P; Lu Weining; Zagzag David; Axelrod Felicia B; Maayan Channa; Gusella James F; Slaugenhaupt Susan A
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
American journal of human genetics 2003;72(3):749-58.
2003: MacDonald Marcy E; Gines Silvia; Gusella James F; Wheeler Vanessa C
Huntington's disease.
Neuromolecular medicine 2003;4(1-2):7-20.
2002: Takano Hiroki; Gusella James F
The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor.
BMC neuroscience 2002;3():15.
2002: Fossale Elisa; Wheeler Vanessa C; Vrbanac Vladimir; Lebel Lori-Anne; Teed Allison; Mysore Jayalakshmi S; Gusella James F; MacDonald Marcy E; Persichetti Francesca
Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.
Human molecular genetics 2002;11(19):2233-41.
2002: Slaugenhaupt Susan A; Gusella James F
Familial dysautonomia.
Current opinion in genetics & development 2002;12(3):307-11.
2002: Wheeler Vanessa C; Gutekunst Claire-Anne; Vrbanac Vladimir; Lebel Lori-Anne; Schilling Gabriele; Hersch Steven; Friedlander Robert M; Gusella James F; Vonsattel Jean-Paul; Borchelt David R; MacDonald Marcy E
Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.
Human molecular genetics 2002;11(6):633-40.
2002: Gusella James; MacDonald Marcy
No post-genetics era in human disease research.
Nature reviews. Genetics 2002;3(1):72-9.
2001: Cuajungco M P; Leyne M; Mull J; Gill S P; Gusella J F; Slaugenhaupt S A
Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
DNA and cell biology 2001;20(9):579-86.
2001: DeStefano A L; Golbe L I; Mark M H; Lazzarini A M; Maher N E; Saint-Hilaire M; Feldman R G; Guttman M; Watts R L; Suchowersky O; Lafontaine A L; Labelle N; Lew M F; Waters C H; Growdon J H; Singer C; Currie L J; Wooten G F; Vieregge P; Pramstaller P P; Klein C; Hubble J P; Stacy M; Montgomery E; MacDonald M E; Gusella J F; Myers R H
Genome-wide scan for Parkinson's disease: the GenePD Study.
Neurology 2001;57(6):1124-6.
2001: Slaugenhaupt S A; Blumenfeld A; Gill S P; Leyne M; Mull J; Cuajungco M P; Liebert C B; Chadwick B; Idelson M; Reznik L; Robbins C; Makalowska I; Brownstein M; Krappmann D; Scheidereit C; Maayan C; Axelrod F B; Gusella J F
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
American journal of human genetics 2001;68(3):598-605.
2001: Gómez-Tortosa E; MacDonald M E; Friend J C; Taylor S A; Weiler L J; Cupples L A; Srinidhi J; Gusella J F; Bird E D; Vonsattel J P; Myers R H
Quantitative neuropathological changes in presymptomatic Huntington's disease.
Annals of neurology 2001;49(1):29-34.
2000: Kluwe L; Mautner V; Parry D M; Jacoby L B; Baser M; Gusella J; Davis K; Stavrou D; MacCollin M
The parental origin of new mutations in neurofibromatosis 2.
Neurogenetics 2000;3(1):17-24.
2000: Passani L A; Bedford M T; Faber P W; McGinnis K M; Sharp A H; Gusella J F; Vonsattel J P; MacDonald M E
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
Human molecular genetics 2000;9(14):2175-82.
2000: Lim D J; Rubenstein A E; Evans D G; Jacks T; Seizinger B G; Baser M E; Beebe D; Brackmann D E; Chiocca E A; Fehon R G; Giovannini M; Glazer R; Gusella J F; Gutmann D H; Korf B; Lieberman F; Martuza R; McClatchey A I; Parry D M; Pulst S M; Ramesh V; Ramsey W J; Ratner N; Rutkowski J L; Ruttledge M; Weinstein D E
Advances in neurofibromatosis 2 (NF2): a workshop report.
Journal of neurogenetics 2000;14(2):63-106.
2000: Castells A; Gusella J F; Ramesh V; Rustgi A K
A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers.
Cancer research 2000;60(11):2836-9.
2000: Wheeler V C; White J K; Gutekunst C A; Vrbanac V; Weaver M; Li X J; Li S H; Yi H; Vonsattel J P; Gusella J F; Hersch S; Auerbach W; Joyner A L; MacDonald M E
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.
Human molecular genetics 2000;9(4):503-13.
2000: Chadwick B P; Leyne M; Gill S; Liebert C B; Mull J; Mezey E; Robbins C M; Pinkett H W; Makalowska I; Maayan C; Blumenfeld A; Axelrod F B; Brownstein M; Gusella J F; Slaugenhaupt S A
Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.
Mammalian genome : official journal of the International Mammalian Genome Society 2000;11(1):81-3.
1999: Gonzalez-Agosti C; Wiederhold T; Herndon M E; Gusella J; Ramesh V
Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF.
The Journal of biological chemistry 1999;274(48):34438-42.
1999: Persichetti F; Trettel F; Huang C C; Fraefel C; Timmers H T; Gusella J F; MacDonald M E
Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment.
Neurobiology of disease 1999;6(5):364-75.
1999: MacDonald M E; Vonsattel J P; Shrinidhi J; Couropmitree N N; Cupples L A; Bird E D; Gusella J F; Myers R H
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.
Neurology 1999;53(6):1330-2.
1999: Castells A; Ino Y; Louis D N; Ramesh V; Gusella J F; Rustgi A K
Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer.
Gastroenterology 1999;117(4):831-7.
1999: Slaugenhaupt S A; Acierno J S; Helbling L A; Bove C; Goldin E; Bach G; Schiffmann R; Gusella J F
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
American journal of human genetics 1999;65(3):773-8.
1999: Chadwick B P; Mull J; Helbling L A; Gill S; Leyne M; Robbins C M; Pinkett H W; Makalowska I; Maayan C; Blumenfeld A; Axelrod F B; Brownstein M; Gusella J F; Slaugenhaupt S A
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.
Genomics 1999;58(3):302-9.
1999: Jacoby L B; MacCollin M; Parry D M; Kluwe L; Lynch J; Jones D; Gusella J F
Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.
Neurogenetics 1999;2(2):101-8.
1999: Blumenfeld A; Slaugenhaupt S A; Liebert C B; Temper V; Maayan C; Gill S; Lucente D E; Idelson M; MacCormack K; Monahan M A; Mull J; Leyne M; Mendillo M; Schiripo T; Mishori E; Breakefield X; Axelrod F B; Gusella J F
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
American journal of human genetics 1999;64(4):1110-8.
1999: Gusella J F; Ramesh V; MacCollin M; Jacoby L B
Merlin: the neurofibromatosis 2 tumor suppressor.
Biochimica et biophysica acta 1999;1423(2):M29-36.
1999: Leeflang E P; Tavaré S; Marjoram P; Neal C O; Srinidhi J; MacFarlane H; MacDonald M E; Gusella J F; de Young M; Wexler N S; Arnheim N
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.
Human molecular genetics 1999;8(2):173-83.
1999: Wheeler V C; Auerbach W; White J K; Srinidhi J; Auerbach A; Ryan A; Duyao M P; Vrbanac V; Weaver M; Gusella J F; Joyner A L; MacDonald M E
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.
Human molecular genetics 1999;8(1):115-22.
1998: Stemmer-Rachamimov A O; Nielsen G P; Rosenberg A E; Louis D N; Jones D; Ramesh V; Gusella J F; Jacoby L B
The NF2 gene and merlin protein in human osteosarcomas.
Neurogenetics 1998;2(1):73-4.
1998: Stemmer-Rachamimov A O; Ino Y; Lim Z Y; Jacoby L B; MacCollin M; Gusella J F; Ramesh V; Louis D N
Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2.
Journal of neuropathology and experimental neurology 1998;57(12):1164-7.
1998: Faber P W; Barnes G T; Srinidhi J; Chen J; Gusella J F; MacDonald M E
Huntingtin interacts with a family of WW domain proteins.
Human molecular genetics 1998;7(9):1463-74.
1998: Chishti A H; Kim A C; Marfatia S M; Lutchman M; Hanspal M; Jindal H; Liu S C; Low P S; Rouleau G A; Mohandas N; Chasis J A; Conboy J G; Gascard P; Takakuwa Y; Huang S C; Benz E J; Bretscher A; Fehon R G; Gusella J F; Ramesh V; Solomon F; Marchesi V T; Tsukita S; Tsukita S; Hoover K B
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
Trends in biochemical sciences 1998;23(8):281-2.
1998: Huang C C; Faber P W; Persichetti F; Mittal V; Vonsattel J P; MacDonald M E; Gusella J F
Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins.
Somatic cell and molecular genetics 1998;24(4):217-33.
1998: Gusella J F; MacDonald M E
Huntingtin: a single bait hooks many species.
Current opinion in neurobiology 1998;8(3):425-30.
1998: McClatchey A I; Saotome I; Mercer K; Crowley D; Gusella J F; Bronson R T; Jacks T
Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors.
Genes & development 1998;12(8):1121-33.
1998: Cowley G S; Murthy A E; Parry D M; Schneider G; Korf B; Upadhyaya M; Harper P; MacCollin M; Bernards A; Gusella J F
Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression.
Somatic cell and molecular genetics 1998;24(2):107-19.
1998: Murthy A; Gonzalez-Agosti C; Cordero E; Pinney D; Candia C; Solomon F; Gusella J; Ramesh V
NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.
The Journal of biological chemistry 1998;273(3):1273-6.
1998: Chadwick B P; Helbling L A; Angrist M; Chakravarti A; Gusella J F; Slaugenhaupt S A
Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR.
Cytogenetics and cell genetics 1998;83(3-4):236-7.
1998: Ozelius L J; Hewett J W; Page C E; Bressman S B; Kramer P L; Shalish C; de Leon D; Brin M F; Raymond D; Jacoby D; Penney J; Risch N J; Fahn S; Gusella J F; Breakefield X O
The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.
Advances in neurology 1998;78():93-105.
1997: Stemmer-Rachamimov A O; Xu L; Gonzalez-Agosti C; Burwick J A; Pinney D; Beauchamp R; Jacoby L B; Gusella J F; Ramesh V; Louis D N
Universal absence of merlin, but not other ERM family members, in schwannomas.
The American journal of pathology 1997;151(6):1649-54.
1997: Jacoby L B; Jones D; Davis K; Kronn D; Short M P; Gusella J; MacCollin M
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.
American journal of human genetics 1997;61(6):1293-302.
1997: White J K; Auerbach W; Duyao M P; Vonsattel J P; Gusella J F; Joyner A L; MacDonald M E
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.
Nature genetics 1997;17(4):404-10.
1997: Pribill I; Barnes G T; Chen J; Church D; Buckler A; Baxendale S; Bates G P; Lehrach H; Gusella M J; Duyao M P; Ambrose C M; Gusella J F; MacDonald M E
Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3.
Somatic cell and molecular genetics 1997;23(6):413-27.
1997: Ozelius L J; Hewett J W; Page C E; Bressman S B; Kramer P L; Shalish C; de Leon D; Brin M F; Raymond D; Corey D P; Fahn S; Risch N J; Buckler A J; Gusella J F; Breakefield X O
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
Nature genetics 1997;17(1):40-8.
1997: McClatchey A I; Saotome I; Ramesh V; Gusella J F; Jacks T
The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation.
Genes & development 1997;11(10):1253-65.
1997: McNeil S M; Novelletto A; Srinidhi J; Barnes G; Kornbluth I; Altherr M R; Wasmuth J J; Gusella J F; MacDonald M E; Myers R H
Reduced penetrance of the Huntington's disease mutation.
Human molecular genetics 1997;6(5):775-9.
1997: Penney J B; Vonsattel J P; MacDonald M E; Gusella J F; Myers R H
CAG repeat number governs the development rate of pathology in Huntington's disease.
Annals of neurology 1997;41(5):689-92.
1997: Ozelius L J; Hewett J; Kramer P; Bressman S B; Shalish C; de Leon D; Rutter M; Risch N; Brin M F; Markova E D; Limborska S A; Ivanova-Smolenskaya I A; McCormick M K; Fahn S; Buckler A J; Gusella J F; Breakefield X O
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.
Genome research 1997;7(5):483-94.
1997: The I; Hannigan G E; Cowley G S; Reginald S; Zhong Y; Gusella J F; Hariharan I K; Bernards A
Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.
Science (New York, N.Y.) 1997;276(5313):791-4.
1997: Ferrante R J; Gutekunst C A; Persichetti F; McNeil S M; Kowall N W; Gusella J F; MacDonald M E; Beal M F; Hersch S M
Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(9):3052-63.
1997: Kosinski C M; Cha J H; Young A B; Persichetti F; MacDonald M; Gusella J F; Penney J B; Standaert D G
Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons.
Experimental neurology 1997;144(2):239-47.
1997: Gusella J F; Persichetti F; MacDonald M E
The genetic defect causing Huntington's disease: repeated in other contexts?
Molecular medicine (Cambridge, Mass.) 1997;3(4):238-46.
1996: Grosson C L; Cannon S C; Corey D P; Gusella J F
Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice.
Brain research. Molecular brain research 1996;42(2):222-6.
1996: Haines J L; Pritchard M L; Saunders A M; Schildkraut J M; Growdon J H; Gaskell P C; Farrer L A; Auerbach S A; Gusella J F; Locke P A; Rosi B L; Yamaoka L; Small G W; Conneally P M; Roses A D; Pericak-Vance M
No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.
Annals of the New York Academy of Sciences 1996;802():35-41.
1996: MacDonald M E; Gusella J F
Huntington's disease: translating a CAG repeat into a pathogenic mechanism.
Current opinion in neurobiology 1996;6(5):638-43.
1996: Jacoby L B; MacCollin M; Barone R; Ramesh V; Gusella J F
Frequency and distribution of NF2 mutations in schwannomas.
Genes, chromosomes & cancer 1996;17(1):45-55.
1996: Murthy A E; Bernards A; Church D; Wasmuth J; Gusella J F
Identification and characterization of two novel tetratricopeptide repeat-containing genes.
DNA and cell biology 1996;15(9):727-35.
1996: Gonzalez-Agosti C; Xu L; Pinney D; Beauchamp R; Hobbs W; Gusella J; Ramesh V
The merlin tumor suppressor localizes preferentially in membrane ruffles.
Oncogene 1996;13(6):1239-47.
1996: MacCollin M; Braverman N; Viskochil D; Ruttledge M; Davis K; Ojemann R; Gusella J; Parry D M
A point mutation associated with a severe phenotype of neurofibromatosis 2.
Annals of neurology 1996;40(3):440-5.
1996: Haines J L; Ter-Minassian M; Bazyk A; Gusella J F; Kim D J; Terwedow H; Pericak-Vance M A; Rimmler J B; Haynes C S; Roses A D; Lee A; Shaner B; Menold M; Seboun E; Fitoussi R P; Gartioux C; Reyes C; Ribierre F; Gyapay G; Weissenbach J; Hauser S L; Goodkin D E; Lincoln R; Usuku K; Oksenberg J R
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group.
Nature genetics 1996;13(4):469-71.
1996: Haines J L; Pritchard M L; Saunders A M; Schildkraut J M; Growdon J H; Gaskell P C; Farrer L A; Auerbach S A; Gusella J F; Locke P A; Rosi B L; Yamaoka L; Small G W; Conneally P M; Roses A D; Pericak-Vance M A
No genetic effect of alpha1-antichymotrypsin in Alzheimer disease.
Genomics 1996;33(1):53-6.
1996: Gusella J F; Ramesh V; MacCollin M; Jacoby L B
Neurofibromatosis 2: loss of merlin's protective spell.
Current opinion in genetics & development 1996;6(1):87-92.
1996: Grosson C L; Esteban J; McKenna-Yasek D; Gusella J F; Brown R H
Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect.
Neuromuscular disorders : NMD 1996;6(1):27-31.
1996: Peterfreund R A; MacCollin M; Gusella J; Fink J S
Characterization and expression of the human A2a adenosine receptor gene.
Journal of neurochemistry 1996;66(1):362-8.
1996: MacDonald M E; Duyao M; Calzonetti T; Auerbach A; Ryan A; Barnes G; White J K; Auerbach W; Vonsattel J P; Gusella J F; Joyner A L
Targeted inactivation of the mouse Huntington's disease gene homolog Hdh.
Cold Spring Harbor symposia on quantitative biology 1996;61():627-38.
1996: Gusella J F; McNeil S; Persichetti F; Srinidhi J; Novelletto A; Bird E; Faber P; Vonsattel J P; Myers R H; MacDonald M E
Huntington's disease.
Cold Spring Harbor symposia on quantitative biology 1996;61():615-26.
1996: Persichetti F; Carlee L; Faber P W; McNeil S M; Ambrose C M; Srinidhi J; Anderson M; Barnes G T; Gusella J F; MacDonald M E
Differential expression of normal and mutant Huntington's disease gene alleles.
Neurobiology of disease 1996;3(3):183-90.
1996: Gusella J F; MacDonald M E
Trinucleotide instability: a repeating theme in human inherited disorders.
Annual review of medicine 1996;47():201-9.
1996: Gasser T; Wszolek Z; Supala A; Trofatter J; Ozelius L; Uitti R J; Pfeiffer R F; Gusella J; Calne D; Breakefield X O
Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes.
Advances in neurology 1996;69():87-95.
1995: Eng C M; Slaugenhaupt S A; Blumenfeld A; Axelrod F B; Gusella J F; Desnick R J
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
American journal of medical genetics 1995;59(3):349-55.
1995: Joseph J T; Lisle D K; Jacoby L B; Paulus W; Barone R; Cohen M L; Roggendorf W H; Bruner J M; Gusella J F; Louis D N
NF2 gene analysis distinguishes hemangiopericytoma from meningioma.
The American journal of pathology 1995;147(5):1450-5.
1995: Trofatter J A; Long K R; Murrell J R; Stotler C J; Gusella J F; Buckler A J
An expression-independent catalog of genes from human chromosome 22.
Genome research 1995;5(3):214-24.
1995: Gusella J F; MacDonald M E
Huntington's disease: CAG genetics expands neurobiology.
Current opinion in neurobiology 1995;5(5):656-62.
1995: Rustgi A K; Xu L; Pinney D; Sterner C; Beauchamp R; Schmidt S; Gusella J F; Ramesh V
Neurofibromatosis 2 gene in human colorectal cancer.
Cancer genetics and cytogenetics 1995;84(1):24-6.
1995: Yong W H; Ueki K; Chou D; Reeves S A; von Deimling A; Gusella J F; Mohrenweiser H W; Buckler A J; Louis D N
Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3.
Genomics 1995;29(2):533-6.
1995: Oddoux C; Reich E; Axelrod F; Blumenfeld A; Maayan C; Slaugenhaupt S; Gusella J; Ostrer H
Prenatal diagnostic testing for familial dysautonomia using linked genetic markers.
Prenatal diagnosis 1995;15(9):817-26.
1995: Leeflang E P; Zhang L; Tavaré S; Hubert R; Srinidhi J; MacDonald M E; Myers R H; de Young M; Wexler N S; Gusella J F
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
Human molecular genetics 1995;4(9):1519-26.
1995: Yong W H; Chou D; Ueki K; Harsh G R; von Deimling A; Gusella J F; Mohrenweiser H W; Louis D N
Chromosome 19q deletions in human gliomas overlap telomeric to D19S219 and may target a 425 kb region centromeric to D19S112.
Journal of neuropathology and experimental neurology 1995;54(5):622-6.
1995: Marchuk D A; Gallione C J; Morrison L A; Clericuzio C L; Hart B L; Kosofsky B E; Louis D N; Gusella J F; Davis L E; Prenger V L
A locus for cerebral cavernous malformations maps to chromosome 7q in two families.
Genomics 1995;28(2):311-4.
1995: Duyao M P; Auerbach A B; Ryan A; Persichetti F; Barnes G T; McNeil S M; Ge P; Vonsattel J P; Gusella J F; Joyner A L
Inactivation of the mouse Huntington's disease gene homolog Hdh.
Science (New York, N.Y.) 1995;269(5222):407-10.
1995: Slaugenhaupt S A; Roca A L; Liebert C B; Altherr M R; Gusella J F; Reppert S M
Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a).
Genomics 1995;27(2):355-7.
1995: Ishioka C; Ballester R; Engelstein M; Vidal M; Kassel J; The I; Bernards A; Gusella J F; Friend S H
A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene.
Oncogene 1995;10(5):841-7.
1995: Gusella J F; MacDonald M E
Huntington's disease.
Seminars in cell biology 1995;6(1):21-8.
1995: Giordani B; Berent S; Boivin M J; Penney J B; Lehtinen S; Markel D S; Hollingsworth Z; Butterbaugh G; Hichwa R D; Gusella J F
Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease.
Archives of neurology 1995;52(1):59-64.
1995: Vonsattel J P; Aizawa H; Ge P; DiFiglia M; McKee A C; MacDonald M; Gusella J F; Landwehrmeyer G B; Bird E D; Richardson E P
An improved approach to prepare human brains for research.
Journal of neuropathology and experimental neurology 1995;54(1):42-56.
1995: Blumenfeld A; Lucente D E; Trofatter J A; Lerner T; Slaugenhaupt S A; Liebert C B; Monahan M; Haines J L; Gusella J F; Breakefield X O; Parysek L M
Peripherin gene is linked to keratin 18 gene on human chromosome 12.
Somatic cell and molecular genetics 1995;21(1):83-8.
1995: Locke P A; Conneally P M; Tanzi R E; Gusella J F; Haines J L
Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases.
Genetic epidemiology 1995;12(1):83-92.
1994: Persichetti F; Srinidhi J; Kanaley L; Ge P; Myers R H; D'Arrigo K; Barnes G T; MacDonald M E; Vonsattel J P; Gusella J F
Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains.
Neurobiology of disease 1994;1(3):159-66.
1994: Yan W L; Lerner T J; Haines J L; Gusella J F
Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3).
Genomics 1994;24(2):375-7.
1994: Ueki K; Rubio M P; Ramesh V; Correa K M; Rutter J L; von Deimling A; Buckler A J; Gusella J F; Louis D N
MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p.
Human molecular genetics 1994;3(10):1841-5.
1994: Rubio M P; Correa K M; Ueki K; Mohrenweiser H W; Gusella J F; von Deimling A; Louis D N
The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC.
Cancer research 1994;54(17):4760-3.
1994: Gasser T; Wszolek Z K; Trofatter J; Ozelius L; Uitti R J; Lee C S; Gusella J; Pfeiffer R F; Calne D B; Breakefield X O
Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes.
Annals of neurology 1994;36(3):387-96.
1994: Hubert R; MacDonald M; Gusella J; Arnheim N
High resolution localization of recombination hot spots using sperm typing.
Nature genetics 1994;7(3):420-4.
1994: Grosson C L; MacDonald M E; Duyao M P; Ambrose C M; Roffler-Tarlov S; Gusella J F
Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.
Mammalian genome : official journal of the International Mammalian Genome Society 1994;5(7):424-8.
1994: Rosen D R; Sapp P; O'Regan J; McKenna-Yasek D; Schlumpf K S; Haines J L; Gusella J F; Horvitz H R; Brown R H
Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.
American journal of medical genetics 1994;51(1):61-9.
1994: MacCollin M; Peterfreund R; MacDonald M; Fink J S; Gusella J
Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22.
Genomics 1994;20(2):332-3.
1994: Haase V H; Trofatter J A; MacCollin M; Tarttelin E; Gusella J F; Ramesh V
The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms.
Human molecular genetics 1994;3(3):407-11.
1994: Ali G; Wasco W; Cai X; Szabo P; Sheu K F; Cooper A J; Gaston S M; Gusella J F; Tanzi R E; Blass J P
Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex.
Somatic cell and molecular genetics 1994;20(2):99-105.
1994: Barnes G T; Duyao M P; Ambrose C M; McNeil S; Persichetti F; Srinidhi J; Gusella J F; MacDonald M E
Mouse Huntington's disease gene homolog (Hdh).
Somatic cell and molecular genetics 1994;20(2):87-97.
1994: Lerner T J; Boustany R M; MacCormack K; Gleitsman J; Schlumpf K; Breakefield X O; Gusella J F; Haines J L
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.
American journal of human genetics 1994;54(1):88-94.
1994: Rubio M P; Correa K M; Ramesh V; MacCollin M M; Jacoby L B; von Deimling A; Gusella J F; Louis D N
Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas.
Cancer research 1994;54(1):45-7.
1994: Hummerich H; Baxendale S; Mott R; Kirby S F; MacDonald M E; Gusella J; Lehrach H; Bates G P
Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.
Human molecular genetics 1994;3(1):73-8.
1993: MacCollin M; Mohney T; Trofatter J; Wertelecki W; Ramesh V; Gusella J
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.
JAMA : the journal of the American Medical Association 1993;270(19):2316-20.
1993: Gusella J F; MacDonald M E; Ambrose C M; Duyao M P
Molecular genetics of Huntington's disease.
Archives of neurology 1993;50(11):1157-63.
1993: Church D M; Banks L T; Rogers A C; Graw S L; Housman D E; Gusella J F; Buckler A J
Identification of human chromosome 9 specific genes using exon amplification.
Human molecular genetics 1993;2(11):1915-20.
1993: Louis D N; Rubio M P; Correa K M; Gusella J F; von Deimling A
Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens.
Journal of neuropathology and experimental neurology 1993;52(5):507-15.
1993: Snell R G; MacMillan J C; Cheadle J P; Fenton I; Lazarou L P; Davies P; MacDonald M E; Gusella J F; Harper P S; Shaw D J
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
Nature genetics 1993;4(4):393-7.
1993: Saunders A M; Strittmatter W J; Schmechel D; George-Hyslop P H; Pericak-Vance M A; Joo S H; Rosi B L; Gusella J F; Crapper-MacLachlan D R; Alberts M J
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.
Neurology 1993;43(8):1467-72.
1993: Rubio M P; von Deimling A; Yandell D W; Wiestler O D; Gusella J F; Louis D N
Accumulation of wild type p53 protein in human astrocytomas.
Cancer research 1993;53(15):3465-7.
1993: Farrer L A; Cupples L A; Wiater P; Conneally P M; Gusella J F; Myers R H
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
American journal of human genetics 1993;53(1):125-30.
1993: McClatchey A I; Cannon S C; Slaugenhaupt S A; Gusella J F
The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain.
Human molecular genetics 1993;2(6):745-9.
1993: Bernards A; Snijders A J; Hannigan G E; Murthy A E; Gusella J F
Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments.
Human molecular genetics 1993;2(6):645-50.
1993: Tagle D A; Blanchard-McQuate K L; Valdes J; Castilla L; MacDonald M E; Gusella J F; Collins F S
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.
Human molecular genetics 1993;2(4):489.
1993: Wyandt H E; Milunsky J; Lerner T; Gusella J F; Hou A; MacDonald M; Adekunle S; Milunsky A
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.
American journal of medical genetics 1993;46(1):72-6.
1993: Snell R G; Doucette-Stamm L A; Gillespie K M; Taylor S A; Riba L; Bates G P; Altherr M R; MacDonald M E; Gusella J F; Wasmuth J J
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.
Human molecular genetics 1993;2(3):305-9.
1993: MacCollin M; Romano D; Budarf M; Denny C; Trofatter J; Menon A; Rouleau G; Fontaine B; Emanuel B; Gusella J
A set of STS assays targeting the chromosome 22 physical framework markers.
Genomics 1993;15(3):680-3.
1993: The I; Murthy A E; Hannigan G E; Jacoby L B; Menon A G; Gusella J F; Bernards A
Neurofibromatosis type 1 gene mutations in neuroblastoma.
Nature genetics 1993;3(1):62-6.
1993: Yan W; Boustany R M; Konradi C; Ozelius L; Lerner T; Trofatter J A; Julier C; Breakefield X O; Gusella J F; Haines J L
Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.
American journal of human genetics 1993;52(1):89-95.
1993: Locke P A; MacDonald M E; Srinidhi J; Gilliam T C; Tanzi R E; Conneally P M; Wexler N S; Haines J L; Gusella J F
A genetic linkage map of the chromosome 4 short arm.
Somatic cell and molecular genetics 1993;19(1):95-101.
1993: Pericak-Vance M A; St George-Hyslop P H; Gaskell P C; Growdon J; Crain B J; Hulette C; Gusella J F; Yamaoka L; Tanzi R E; Roses A D
Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.
Genetic epidemiology 1993;10(6):361-4.
1992: Allitto B A; McClatchey A I; Barnes G; Altherr M; Wasmuth J; Frischauf A M; MacDonald M E; Gusella J
Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.
Molecular and cellular probes 1992;6(6):513-20.
1992: Bernards A; Haase V H; Murthy A E; Menon A; Hannigan G E; Gusella J F
Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line.
DNA and cell biology 1992;11(10):727-34.
1992: Grafton S T; Mazziotta J C; Pahl J J; St George-Hyslop P; Haines J L; Gusella J; Hoffman J M; Baxter L R; Phelps M E
Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease.
Archives of neurology 1992;49(11):1161-7.
1992: Altherr M R; Gusella J F; Wasmuth J J; Kummer M A; McKercher S W; Johnson V P
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.
American journal of medical genetics 1992;44(4):449-54.
1992: Ozelius L J; Kwiatkowski D J; Schuback D E; Breakefield X O; Wexler N S; Gusella J F; Haines J L
A genetic linkage map of human chromosome 9q.
Genomics 1992;14(3):715-20.
1992: Donaldson D H; Rosen D R; O'Regan J; Sapp P C; Horvitz H R; Gusella J F; Haines J L; Pestka S; Jung V; Nusbaum C
Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1).
Human molecular genetics 1992;1(8):651.
1992: Wasco W; Bupp K; Magendantz M; Gusella J F; Tanzi R E; Solomon F
Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(22):10758-62.
1992: Tanzi R E; Romano D M; Berger R; Buraczynska M J; Gaston S M; Kurnit D M; Patterson D; Gusella J F; Stewart G D
Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21.
Genomics 1992;14(2):498-502.
1992: Youngman S; Bates G P; Williams S; McClatchey A I; Baxendale S; Sedlacek Z; Altherr M; Wasmuth J J; MacDonald M E; Gusella J F
The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.
Genomics 1992;14(2):350-6.
1992: McClatchey A I; Lin C S; Wang J; Hoffman E P; Rojas C; Gusella J F
The genomic structure of the human skeletal muscle sodium channel gene.
Human molecular genetics 1992;1(7):521-7.
1992: McClatchey A I; McKenna-Yasek D; Cros D; Worthen H G; Kuncl R W; DeSilva S M; Cornblath D R; Gusella J F; Brown R H
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
Nature genetics 1992;2(2):148-52.
1992: Rosen D R; Sapp P C; O'Regan J; Horvitz H R; Donaldson D H; Nussbaum C; Gusella J F; Haines J L; Pestka S; Jung V
Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1.
Human molecular genetics 1992;1(7):547.
1992: Trofatter J A; Sytsma M L; Gusella J F; Haines J L
Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2).
Human molecular genetics 1992;1(6):455.
1992: Altherr M R; Plummer S; Bates G; MacDonald M; Taylor S; Lehrach H; Frischauf A M; Gusella J F; Boehnke M; Wasmuth J J
Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.
Genomics 1992;13(4):1040-6.
1992: Snell R G; Thompson L M; Tagle D A; Holloway T L; Barnes G; Harley H G; Sandkuijl L A; MacDonald M E; Collins F S; Gusella J F
A recombination event that redefines the Huntington disease region.
American journal of human genetics 1992;51(2):357-62.
1992: von Deimling A; von Deimling F; Louis D N; Trofatter J; Gusella J F; Seizinger B R
A RsaI polymorphism in the ERCC2 locus.
Human molecular genetics 1992;1(5):355.
1992: Gusella J F; Altherr M R; McClatchey A I; Doucette-Stamm L A; Tagle D; Plummer S; Groot N; Barnes G; Hummerich H; Collins F S
Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region.
Genomics 1992;13(1):75-80.
1992: Taylor S A; Barnes G T; MacDonald M E; Gusella J F
A dinucleotide repeat polymorphism at the D4S127 locus.
Human molecular genetics 1992;1(2):142.
1992: Ozelius L; Schuback D E; Stefansson K; Slaugenhaupt S; Gusella J F; Breakefield X O
Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34.
Human molecular genetics 1992;1(2):141.
1992: Ozelius L J; Kramer P L; de Leon D; Risch N; Bressman S B; Schuback D E; Brin M F; Kwiatkowski D J; Burke R E; Gusella J F
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
American journal of human genetics 1992;50(3):619-28.
1992: Tanzi R E; Watkins P C; Stewart G D; Wexler N S; Gusella J F; Haines J L
A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age.
American journal of human genetics 1992;50(3):551-8.
1992: Haines J L; Yan W L; Boustany R M; Jewell A; Julier C; Breakefield X O; Gusella J F
Linkage analysis in juvenile neuronal ceroid lipofuscinosis.
American journal of medical genetics 1992;42(4):542-5.
1992: Baxter L R; Mazziotta J C; Pahl J J; Grafton S T; St George-Hyslop P; Haines J L; Gusella J F; Szuba M P; Selin C E; Guze B H
Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease.
Archives of general psychiatry 1992;49(2):148-54.
1992: Ambrose C; Cheng S; Fontaine B; Nadeau J H; MacDonald M; Gusella J F
The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(3):151-5.
1992: Ramesh V; Cheng S V; Kozak C A; Herron B J; Shih V E; Taylor B A; Gusella J F
Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(1):17-22.
1992: Haines J L; Trofatter J A; Tanzi R E; Watkins P; Wexler N S; Conneally P M; Gusella J F
Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree.
Cytogenetics and cell genetics 1992;59(2-3):88-9.
1992: Park J K; O'Donnell J J; Shih V E; Gusella J F; Ramesh V
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
Human mutation 1992;1(4):293-7.
1991: Baxendale S; Bates G P; MacDonald M E; Gusella J F; Lehrach H
The direct screening of cosmid libraries with YAC clones.
Nucleic acids research 1991;19(23):6651.
1991: Altherr M R; Bengtsson U; Elder F F; Ledbetter D H; Wasmuth J J; McDonald M E; Gusella J F; Greenberg F
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.
American journal of human genetics 1991;49(6):1235-42.
1991: Thompson L M; Plummer S; Schalling M; Altherr M R; Gusella J F; Housman D E; Wasmuth J J
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
Genomics 1991;11(4):1133-42.
1991: Tanzi R E; George-Hyslop P S; Gusella J F
Molecular genetics of Alzheimer disease amyloid.
The Journal of biological chemistry 1991;266(31):20579-82.
1991: Konradi C; Ozelius L; Yan W; Gusella J F; Breakefield X O
Dinucleotide repeat polymorphism (D16S285) on human chromosome 16.
Nucleic acids research 1991;19(19):5449.
1991: Haines J L; Short M P; Kwiatkowski D J; Jewell A; Andermann E; Bejjani B; Yang C H; Gusella J F; Amos J A
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
American journal of human genetics 1991;49(4):764-72.
1991: Lazarou L P; Snell R G; MacDonald M E; Gusella J F; Wasmuth J J; Shaw D J
MboI RFLP at the D4S43 (C4H) locus.
Nucleic acids research 1991;19(19):5445.
1991: MacDonald M E; Lin C; Srinidhi L; Bates G; Altherr M; Whaley W L; Lehrach H; Wasmuth J; Gusella J F
Complex patterns of linkage disequilibrium in the Huntington disease region.
American journal of human genetics 1991;49(4):723-34.
1991: Doucette-Stamm L A; Riba L; Handelin B; Difilippantonio M; Ward D C; Wasmuth J J; Gusella J F; Housman D E
Generation and characterization of irradiation hybrids of human chromosome 4.
Somatic cell and molecular genetics 1991;17(5):471-80.
1991: Lin C S; Altherr M; Bates G; Whaley W L; Read A P; Harris R; Lehrach H; Wasmuth J J; Gusella J F; MacDonald M E
New DNA markers in the Huntington's disease gene candidate region.
Somatic cell and molecular genetics 1991;17(5):481-8.
1991: Horn G T; McClatchey A I; Richards B; MacDonald M E; Gusella J F
Detection by PCR of a VNTR polymorphism at D4S43.
Nucleic acids research 1991;19(17):4772.
1991: Kwiatkowski D J; Ozelius L; Kramer P L; Perman S; Schuback D E; Gusella J F; Fahn S; Breakefield X O
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.
American journal of human genetics 1991;49(2):366-71.
1991: MacDonald M E; Scott H S; Whaley W L; Pohl T; Wasmuth J J; Lehrach H; Morris C P; Frischauf A M; Hopwood J J; Gusella J F
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
Somatic cell and molecular genetics 1991;17(4):421-5.
1991: Bates G P; MacDonald M E; Baxendale S; Youngman S; Lin C; Whaley W L; Wasmuth J J; Gusella J F; Lehrach H
Defined physical limits of the Huntington disease gene candidate region.
American journal of human genetics 1991;49(1):7-16.
1991: Allitto B A; Horn G T; Altherr M R; Richards B; McClatchey A I; Wasmuth J J; Gusella J F
Detection by PCR of the VNTR polymorphism at D4S95.
Nucleic acids research 1991;19(14):4015.
1991: Trofatter J A; Gusella J F; Haines J L
Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus.
Nucleic acids research 1991;19(10):2802.
1991: Fontaine B; Hanson M P; VonSattel J P; Martuza R L; Gusella J F
Loss of chromosome 22 alleles in human sporadic spinal schwannomas.
Annals of neurology 1991;29(2):183-6.
1991: Ramesh V; Gusella J F; Shih V E
Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
Molecular biology & medicine 1991;8(1):81-93.
1991: Fontaine B; Rouleau G A; Seizinger B R; Menon A G; Jewell A F; Martuza R L; Gusella J F
Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma).
Annals of the New York Academy of Sciences 1991;615():338-43.
1991: Brown R H; Horvitz H R; Rouleau G A; McKenna-Yasek D; Beard C; Sapp P; Haines J L; Gusella J F; Figlewicz D A
Gene linkage in familial amyotrophic lateral sclerosis: a progress report.
Advances in neurology 1991;56():215-26.
1991: Gusella J F
The search for the genetic defects in Huntington's disease and familial Alzheimer's disease.
Research publications - Association for Research in Nervous and Mental Disease 1991;69():75-83.
1991: Fontaine B; Trofatter J; Rouleau G A; Khurana T S; Haines J; Brown R; Gusella J F
Different gene loci for hyperkalemic and hypokalemic periodic paralysis.
Neuromuscular disorders : NMD 1991;1(4):235-8.
1990: Fontaine B; Rouleau G A; Seizinger B; Jewell A F; Hanson M P; Martuza R L; Gusella J F
Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.
American journal of human genetics 1990;47(5):823-7.
1990: McClatchey A I; Kaufman D L; Berson E L; Tobin A J; Shih V E; Gusella J F; Ramesh V
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
American journal of human genetics 1990;47(5):790-4.
1990: Grafton S T; Mazziotta J C; Pahl J J; St George-Hyslop P; Haines J L; Gusella J; Hoffman J M; Baxter L R; Phelps M E
A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease.
Annals of neurology 1990;28(5):614-21.
1990: Haines J L; Ozelius L J; McFarlane H; Menon A; Tzall S; Martiniuk F; Hirschhorn R; Gusella J F
A genetic linkage map of chromosome 17.
Genomics 1990;8(1):1-6.
1990: Fontaine B; Hanson M P; Liou H C; Glimcher L H; Rouleau G A; Gusella J F
BanI polymorphism at the XBP1 locus.
Nucleic acids research 1990;18(18):5578.
1990: Menon A G; Gusella J F; Seizinger B R
Progress toward the isolation and characterization of the genes causing neurofibromatosis.
Brain pathology (Zurich, Switzerland) 1990;1(1):33-40.
1990: Rouleau G A; Bazanowski A; Gusella J F; Haines J L
A genetic map of chromosome 1: comparison of different data sets and linkage programs.
Genomics 1990;7(3):313-8.
1990: Bates G P; MacDonald M E; Baxendale S; Sedlacek Z; Youngman S; Romano D; Whaley W L; Allitto B A; Poustka A; Gusella J F
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
American journal of human genetics 1990;46(4):762-75.
1990: Rouleau G A; Seizinger B R; Wertelecki W; Haines J L; Superneau D W; Martuza R L; Gusella J F
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.
American journal of human genetics 1990;46(2):323-8.
1990: Tanzi R E; Haines J L; Gusella J F
Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex.
Progress in clinical and biological research 1990;360():15-26.
1990: Menon A G; Gusella J F; Seizinger B R
Progress towards the isolation and characterization of the genes causing neurofibromatosis.
Cancer surveys 1990;9(4):689-702.
1989: St George-Hyslop P H; Haines J L; Polinsky R J; Tanzi R E; Farrer L; Myers R H; Gusella J F
Molecular genetics of familial Alzheimer's disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1989;16(4 Suppl):465-7.
1989: Youngman S; Sarfarazi M; Bucan M; MacDonald M; Smith B; Zimmer M; Gilliam C; Frischauf A M; Wasmuth J J; Gusella J F
A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.
Genomics 1989;5(4):802-9.
1989: Myers R H; Leavitt J; Farrer L A; Jagadeesh J; McFarlane H; Mastromauro C A; Mark R J; Gusella J F
Homozygote for Huntington disease.
American journal of human genetics 1989;45(4):615-8.
1989: Sax D S; Bird E D; Gusella J F; Myers R H
Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4.
Neurology 1989;39(10):1332-6.
1989: St George-Hyslop P H; Myers R H; Haines J L; Farrer L A; Tanzi R E; Abe K; James M F; Conneally P M; Polinsky R J; Gusella J F
Familial Alzheimer's disease: progress and problems.
Neurobiology of aging 1989;10(5):417-25.
1989: Gusella J F
Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1989;3(9):2036-41.
1989: Van Keuren M L; Stewart G D; Bradley C M; Kurnit D M; Neve R L; Watkins P C; Tanzi R E; Gusella J F; Patterson D
Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes.
American journal of medical genetics 1989;33(3):369-75.
1989: Kwiatkowski D J; Ozelius L; Schuback D; Gusella J; Breakefield X O
The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.
Nucleic acids research 1989;17(11):4425.
1989: Fountain J W; Wallace M R; Bruce M A; Seizinger B R; Menon A G; Gusella J F; Michels V V; Schmidt M A; Dewald G W; Collins F S
Physical mapping of a translocation breakpoint in neurofibromatosis.
Science (New York, N.Y.) 1989;244(4908):1085-7.
1989: Rouleau G A; Haines J L; Bazanowski A; Colella-Crowley A; Trofatter J A; Wexler N S; Conneally P M; Gusella J F
A genetic linkage map of the long arm of human chromosome 22.
Genomics 1989;4(1):1-6.
1988: Geissler E N; Cheng S V; Gusella J F; Housman D E
Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(24):9635-9.
1988: Patterson D; Gardiner K; Kao F T; Tanzi R; Watkins P; Gusella J F
Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(21):8266-70.
1988: Phelan M C; Morton C C; Stevenson R E; Tanzi R E; Stewart G D; Watkins P C; Gusella J F; Amos J A
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
American journal of human genetics 1988;43(4):511-9.
1988: Richards J E; Gilliam T C; Cole J L; Drumm M L; Wasmuth J J; Gusella J F; Collins F S
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(17):6437-41.
1988: Sacchi N; Cheng S V; Tanzi R E; Gusella J F; Drabkin H A; Patterson D; Haines J H; Papas T S
The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21).
Genomics 1988;3(2):110-6.
1988: Wertelecki W; Rouleau G A; Superneau D W; Forehand L W; Williams J P; Haines J L; Gusella J F
Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred.
The New England journal of medicine 1988;319(5):278-83.
1988: Tanzi R E; Haines J L; Watkins P C; Stewart G D; Wallace M R; Hallewell R; Wong C; Wexler N S; Conneally P M; Gusella J F
Genetic linkage map of human chromosome 21.
Genomics 1988;3(2):129-36.
1988: Cheng S V; Nadeau J H; Tanzi R E; Watkins P C; Jagadesh J; Taylor B A; Haines J L; Sacchi N; Gusella J F
Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(16):6032-6.
1988: Sacchi N; Gusella J F; Perroni L; Bricarelli F D; Papas T S
Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(13):4794-8.
1988: Ramesh V; McClatchey A I; Ramesh N; Benoit L A; Berson E L; Shih V E; Gusella J F
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(11):3777-80.
1988: Graw S; Davidson J; Gusella J; Watkins P; Tanzi R; Neve R; Patterson D
Irradiation-reduced human chromosome 21 hybrids.
Somatic cell and molecular genetics 1988;14(3):233-42.
1988: Meissen G J; Myers R H; Mastromauro C A; Koroshetz W J; Klinger K W; Farrer L A; Watkins P A; Gusella J F; Bird E D; Martin J B
Predictive testing for Huntington's disease with use of a linked DNA marker.
The New England journal of medicine 1988;318(9):535-42.
1988: Youngman S; Shaw D J; Gusella J F; MacDonald M; Stanbridge E J; Wasmuth J; Harper P S
A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3.
Nucleic acids research 1988;16(4):1648.
1988: Ramesh V; Benoit L A; Crawford P; Harvey P T; Shows T B; Shih V E; Gusella J F
The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.
American journal of human genetics 1988;42(2):365-72.
1988: Tanzi R E; McClatchey A I; Lamperti E D; Villa-Komaroff L; Gusella J F; Neve R L
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease.
Nature 1988;331(6156):528-30.
1988: Gilliam T C; Gusella J F; Lehrach H
Molecular genetic strategies to investigate Huntington's disease.
Advances in neurology 1988;48():17-29.
1987: Cheng S V; Gross Lugo T; Tanzi R E; Whitney J B; Fournier R E; Gusella J F
Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker.
DNA (Mary Ann Liebert, Inc.) 1987;6(5):401-7.
1987: MacDonald M E; Anderson M A; Lockyer J L; Milstien S; Hobbs W J; Faryniarz A G; Kaufman S; Ledley F D; Woo S L; Gusella J F
Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4.
Somatic cell and molecular genetics 1987;13(5):569-74.
1987: Rouleau G A; Wertelecki W; Haines J L; Hobbs W J; Trofatter J A; Seizinger B R; Martuza R L; Superneau D W; Conneally P M; Gusella J F
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.
Nature 1987;329(6136):246-8.
1987: Watkins P C; Eddy R; Beck A K; Vellucci V; Leverone B; Tanzi R E; Gusella J F; Shows T B
DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11.
DNA (Mary Ann Liebert, Inc.) 1987;6(3):205-12.
1987: Watkins P C; Tanzi R E; Cheng S V; Gusella J F
Molecular genetics of human chromosome 21.
Journal of medical genetics 1987;24(5):257-70.
1987: Tanzi R E; Gusella J F; Watkins P C; Bruns G A; St George-Hyslop P; Van Keuren M L; Patterson D; Pagan S; Kurnit D M; Neve R L
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.
Science (New York, N.Y.) 1987;235(4791):880-4.
1987: Seizinger B R; Martuza R L; Rouleau G; Breakefield X O; Gusella J F
Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis.
Developmental neuroscience 1987;9(3):144-53.
1987: Gusella J F; Wexler N S; Conneally P M
A molecular genetic approach to Huntington's disease.
Research publications - Association for Research in Nervous and Mental Disease 1987;65():133-41.
1986: Youngman S; Sarfarazi M; Quarrell O W; Conneally P M; Gibbons K; Harper P S; Shaw D J; Tanzi R E; Wallace M R; Gusella J F
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.
Human genetics 1986;73(4):333-9.
1986: Van Keuren M L; Watkins P C; Drabkin H A; Jabs E W; Gusella J F; Patterson D
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.
American journal of human genetics 1986;38(6):793-804.
1986: Seizinger B R; Tanzi R E; Gilliam T C; Bader J L; Parry D M; Spence M A; Marazita M L; Gibbons K; Hobbs W; Gusella J F
Genetic linkage analysis of neurofibromatosis with DNA markers.
Annals of the New York Academy of Sciences 1986;486():304-10.
1986: Gusella J F; Gilliam T C; Tanzi R E; MacDonald M E; Cheng S V; Wallace M; Haines J; Conneally P M; Wexler N S
Molecular genetics of Huntington's disease.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():359-64.
1986: Watkins P C; Eddy R; Hoffman N; Stanislovitis P; Beck A K; Galli J; Vellucci V; Gusella J F; Shows T B
Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22.
Cytogenetics and cell genetics 1986;42(4):214-8.
1985: Harper P S; Youngman S; Anderson M A; Sarfarazi M; Quarrell O; Tanzi R; Shaw D; Wallace P; Conneally P M; Gusella J F
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.
Journal of medical genetics 1985;22(6):447-50.
1985: Gusella J F; Tanzi R E; Bader P I; Phelan M C; Stevenson R; Hayden M R; Hofman K J; Faryniarz A G; Gibbons K
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.
Nature 1985;318(6041):75-8.
1985: Watkins P C; Tanzi R E; Gibbons K T; Tricoli J V; Landes G; Eddy R; Shows T B; Gusella J F
Isolation of polymorphic DNA segments from human chromosome 21.
Nucleic acids research 1985;13(17):6075-88.
1985: Patterson D; van Keuren M; Drabkin H; Watkins P; Gusella J; Scoggin C
Molecular analysis of chromosome 21 using somatic cell hybrids.
Annals of the New York Academy of Sciences 1985;450():109-20.
1985: Gusella J F; Tanzi R E; Watkins P C; Gibbons K T; Hobbs W J; Faryniarz A G; Healey S T; Anderson M A
Genetic linkage map for chromosome 21.
Annals of the New York Academy of Sciences 1985;450():25-31.
1984: Gusella J F; Tanzi R E; Anderson M A; Hobbs W; Gibbons K; Raschtchian R; Gilliam T C; Wallace M R; Wexler N S; Conneally P M
DNA markers for nervous system diseases.
Science (New York, N.Y.) 1984;225(4668):1320-6.
1983: Gusella J F; Wexler N S; Conneally P M; Naylor S L; Anderson M A; Tanzi R E; Watkins P C; Ottina K; Wallace M R; Sakaguchi A Y
A polymorphic DNA marker genetically linked to Huntington's disease.
Nature 1983;306(5940):234-8.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

James Gusella

Research Profile (preview)

Disorders

Procedures

Concepts & Ideas

Chemicals & Drugs

Anatomy

Genes & Molecular Sequences

Physiology

Living Beings

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of James Gusella (preview)

All Publications