Show items per page
Elements: 50
Page 1 on 1
 TitleAuthors / EditorsDate
add to browser selection
10 years of Genomics, chromosome 21, and Down syndrome Antonarakis, Stylianos 1998
add to browser selection
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 Sertie, A. L.; Quimby, M.; Moreira, E. S.; Murray, J.; ... Passos-Bueno, M. R. 1996
add to browser selection
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination Blouin, Jean-Louis; Christie, D. H.; Gos, A.; Lynn, A.; ... Antonarakis, Stylianos 1995
add to browser selection
A novel locus regulates both retroviral glycoprotein 70 and anti-glycoprotein 70 antibody production in New Zealand mice when crossed with BALB/c Rigby, R. J.; Rozzo, S. J.; Gill, Herpreet; Fernandez-Hart, Timothy; ... Vyse, T. J. 2004
add to browser selection
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein Wattenhofer, Marie; Sahin-Calapoglu, Nilufer; Andreasen, Ditte; Kalay, Ersan; ... Antonarakis, Stylianos 2005
add to browser selection
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 Radhakrishna, U.; Blouin, Jean-Louis; Solanki, J. V.; Dhoriani, G. M.; Antonarakis, Stylianos 1996
add to browser selection
APECED: a monogenic autoimmune disease providing new clues to self-tolerance Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. 1998
add to browser selection
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1 Beiraghi, Soraya; Nath, S. K.; Gaines, Matthew; Mandhyan, D. D.; ... Radhakrishna, Uppala 2007
add to browser selection
Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain Margolis, R. L.; Breschel, T. S.; Li, S. H.; Kidwai, A. S.; ... Ross, C. A. 1995
add to browser selection
Chromosomal assignments of genes for tissue plasminogen activator and urokinase in mouse Rajput, B.; Marshall, A.; Killary, A. M.; Lalley, P. A.; ... Strickland, S. 1987
add to browser selection
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos 1996
add to browser selection
Contribution of gender-specific genetic factors to osteoporosis risk Karasik, D.; Ferrari, Serge Livio 2008
add to browser selection
Contributions of Ea(z) and Eb(z) MHC genes to lupus susceptibility in New Zealand mice Vyse, T. J.; Rozzo, S. J.; Drake, C. G.; Appel, V. B.; ... Kotzin, B. L. 1998
add to browser selection
Control of multiple autoantibodies linked with a lupus nephritis susceptibility locus in New Zealand black mice Vyse, T. J.; Rozzo, S. J.; Drake, C. G.; Izui, Shozo; Kotzin, B. L. 1997
add to browser selection
Dissection of BXSB lupus phenotype using mice congenic for chromosome 1 demonstrates that separate intervals direct different aspects of disease Haywood, M. E.; Rogers, N. J.; Rose, S. J.; Boyle, Joseph; ... Morley, B. J. 2004
add to browser selection
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala 2006
add to browser selection
Effect of genetic background on Ea(d) transgene-mediated protection from murine lupus Iwamoto, Masahiro; Ibnou-Zekri, Nabila; Kobayakawa, T.; Izui, Shozo 1998
add to browser selection
Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3 Lasseter, V. K.; Pulver, A. E.; Wolyniec, P. S.; Nestadt, G.; ... Kasch, L. 1995
add to browser selection
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation Everman, D. B.; Morgan, C. T.; Lyle, Robert; Laughridge, M. E.; ... Schwartz, C. E. 2006
add to browser selection
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes Pulver, A. E.; Mulle, J.; Nestadt, G.; Swartz, K. L.; ... McGrath, J. A. 2000
add to browser selection
Genetic linkage of IgG autoantibody production in relation to lupus nephritis in New Zealand hybrid mice Vyse, T. J.; Drake, C. G.; Rozzo, S. J.; Roper, E.; ... Kotzin, B. L. 1996
add to browser selection
Genome linkage scanning: systematic or intelligent? Antonarakis, Stylianos 1994
add to browser selection
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34 Radhakrishna, Uppala; Ratnamala, Uppala; Gaines, Mathew; Beiraghi, Soraya; ... Nath, S. K. 2006
add to browser selection
Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin Kazadi, Kayole; Loeuillet, Corinne; Deutsch, Samuel; Ciuffi, Angela; ... Telenti, Amalio 2008
add to browser selection
Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus Karayiorgou, M.; Gogos, J. A.; Galke, B. L.; Jeffery, J. A.; ... Pulver, A. E. 1996
add to browser selection
Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes Chen, H.; Lowther, W.; Avramopoulos, D.; Antonarakis, Stylianos 1994
add to browser selection
Human chromosome 21: genome mapping and exploration, circa 1993 Antonarakis, Stylianos 1993
add to browser selection
Identification of 2 major loci linked to autoimmune hemolytic anemia in NZB mice Kikuchi, Shuichi; Amano, Hirofumi; Amano, Eri; Fossati-Jimack, Liliane; ... Izui, Shozo 2005
add to browser selection
Igh-C allotype-linked control of anti-DNA production and clonotype expression in mice infected with Plasmodium yoelii Yoshida, Haruyoshi; Fossati-Jimack, Liliane; Yoshida, M.; Abdelmoula, M.; ... Izui, Shozo 1988
add to browser selection
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
add to browser selection
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 Antonarakis, Stylianos; Blouin, Jean-Louis; Lasseter, V. K.; Gehrig, Corinne; ... Pulver, A. E. 1999
add to browser selection
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients Fokstuen, Siv; Bottani, Armand; Medeiros, P. F.; Antonarakis, Stylianos; ... Schinzel, A. 1997
add to browser selection
Linkage of a major quantitative trait locus to Yaa gene-induced lupus-like nephritis in (NZW x C57BL/6)F1 mice Santiago-Raber, Marie-Laure; Mary, Charles; Parzy, Daniel; Jacquet, Chantal; ... Reininger, Luc 1998
add to browser selection
Locations of human and mouse genes encoding the RFX1 and RFX2 transcription factor proteins Doyle, J.; Hoffman, S.; Ucla, C.; Reith, Walter; ... Stubbs, L. 1996
add to browser selection
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Patel, U. C.; ... Antonarakis, Stylianos 1997
add to browser selection
Mind the GAP, Rho, Rab and GDI Antonarakis, Stylianos; Van Aelst, L. 1998
add to browser selection
Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Gitschier, J.; Hutter, P.; ... Morris, Michael Andréw 1995
add to browser selection
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 Curtis, L.; Blouin, Jean-Louis; Radhakrishna, U.; Gehrig, Corinne; ... Antonarakis, Stylianos 1999
add to browser selection
Patterns of meiotic recombination on the long arm of human chromosome 21 Lynn, A.; Kashuk, C.; Petersen, M. B.; Bailey, J. A.; ... Chakravarti, A. 2000
add to browser selection
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos 2000
add to browser selection
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
add to browser selection
Schizophrenia susceptibility and chromosome 6p24-22 Antonarakis, Stylianos; Blouin, Jean-Louis; Pulver, A. E.; Wolyniec, P.; ... Dombroski, B. 1995
add to browser selection
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 Blouin, Jean-Louis; Dombroski, B. A.; Nath, S. K.; Lasseter, V. K.; ... Pulver, A. E. 1998
add to browser selection
Structure of Pseudomonas aeruginosa populations analyzed by single nucleotide polymorphism and pulsed-field gel electrophoresis genotyping Morales, Gracia; Wiehlmann, Lutz; Gudowius, Peter; Van Delden, Christian; ... Rojo, Fernando 2004
add to browser selection
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos 1997
add to browser selection
The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes Pulver, A. E.; Wolyniec, P. S.; Housman, D.; Kazazian, H. H.; ... Kempf, L. 1996
add to browser selection
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 Neerman Arbez, Marguerite; Antonarakis, Stylianos; Blouin, Jean-Louis; Zeinali, S.; ... Tuddenham, E. G. 1997
add to browser selection
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells Talbot, C. C.; Avramopoulos, D.; Gerken, S.; Chakravarti, A.; ... Antonarakis, Stylianos 1995
add to browser selection
The Y chromosome from autoimmune BXSB/MpJ mice induces a lupus-like syndrome in (NZW x C57BL/6)F1 male mice, but not in C57BL/6 male mice Izui, Shozo; Higaki, M.; Morrow, D.; Merino, Ramon 1988
add to browser selection
The Yaa gene abrogates the major histocompatibility complex association of murine lupus in (NZB x BXSB)F1 hybrid mice Merino, Ramon; Iwamoto, Masahiro; Gershwin, M. E.; Izui, Shozo 1994