Search Results - (Author, Cooperation:S. M. Leal)
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1Latest Papers from Table of Contents or Articles in PressJ. A. Tennessen ; A. W. Bigham ; T. D. O'Connor ; W. Fu ; E. E. Kenny ; S. Gravel ; S. McGee ; R. Do ; X. Liu ; G. Jun ; H. M. Kang ; D. Jordan ; S. M. Leal ; S. Gabriel ; M. J. Rieder ; G. Abecasis ; D. Altshuler ; D. A. Nickerson ; E. Boerwinkle ; S. Sunyaev ; C. D. Bustamante ; M. J. Bamshad ; J. M. Akey
American Association for the Advancement of Science (AAAS)
Published 2012Staff ViewPublication Date: 2012-05-19Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: African Americans/*genetics ; Disease/genetics ; European Continental Ancestry Group/*genetics ; *Evolution, Molecular ; *Exome ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; *Genetic Variation ; *Genome, Human ; *High-Throughput Nucleotide Sequencing ; Humans ; Male ; *Polymorphism, Single Nucleotide ; Population Growth ; Selection, GeneticPublished by: -
2Latest Papers from Table of Contents or Articles in PressV. Vacic ; S. McCarthy ; D. Malhotra ; F. Murray ; H. H. Chou ; A. Peoples ; V. Makarov ; S. Yoon ; A. Bhandari ; R. Corominas ; L. M. Iakoucheva ; O. Krastoshevsky ; V. Krause ; V. Larach-Walters ; D. K. Welsh ; D. Craig ; J. R. Kelsoe ; E. S. Gershon ; S. M. Leal ; M. Dell Aquila ; D. W. Morris ; M. Gill ; A. Corvin ; P. A. Insel ; J. McClellan ; M. C. King ; M. Karayiorgou ; D. L. Levy ; L. E. DeLisi ; J. Sebat
Nature Publishing Group (NPG)
Published 2011Staff ViewPublication Date: 2011-02-25Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Cell Line ; Chromosomes, Human, Pair 7/genetics ; Cohort Studies ; Cyclic AMP/metabolism ; DNA Copy Number Variations/*genetics ; Female ; Gene Dosage/genetics ; Genes, Duplicate/*genetics ; Genetic Predisposition to Disease/*genetics ; Genome-Wide Association Study ; Humans ; Inheritance Patterns/genetics ; Male ; Pedigree ; Receptors, Vasoactive Intestinal Peptide, Type II/*genetics/metabolism ; Reproducibility of Results ; Schizophrenia/*genetics/metabolism ; Signal Transduction ; Transcription, Genetic/geneticsPublished by: -
3Latest Papers from Table of Contents or Articles in PressD. G. MacArthur ; T. A. Manolio ; D. P. Dimmock ; H. L. Rehm ; J. Shendure ; G. R. Abecasis ; D. R. Adams ; R. B. Altman ; S. E. Antonarakis ; E. A. Ashley ; J. C. Barrett ; L. G. Biesecker ; D. F. Conrad ; G. M. Cooper ; N. J. Cox ; M. J. Daly ; M. B. Gerstein ; D. B. Goldstein ; J. N. Hirschhorn ; S. M. Leal ; L. A. Pennacchio ; J. A. Stamatoyannopoulos ; S. R. Sunyaev ; D. Valle ; B. F. Voight ; W. Winckler ; C. Gunter
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-04-25Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: *Disease ; False Positive Reactions ; Genes/genetics ; Genetic Predisposition to Disease/*genetics ; Genetic Variation/*genetics ; *Guidelines as Topic ; Humans ; Information Dissemination ; Publishing ; Reproducibility of Results ; Research Design ; Translational Medical Research/standardsPublished by: -
4Latest Papers from Table of Contents or Articles in PressL. Wang ; S. Yamaguchi ; M. D. Burstein ; K. Terashima ; K. Chang ; H. K. Ng ; H. Nakamura ; Z. He ; H. Doddapaneni ; L. Lewis ; M. Wang ; T. Suzuki ; R. Nishikawa ; A. Natsume ; S. Terasaka ; R. Dauser ; W. Whitehead ; A. Adekunle ; J. Sun ; Y. Qiao ; G. Marth ; D. M. Muzny ; R. A. Gibbs ; S. M. Leal ; D. A. Wheeler ; C. C. Lau
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-06-05Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adult ; Brain Neoplasms/*genetics/pathology ; Child ; Female ; Germ-Line Mutation/*genetics ; Humans ; Japan ; Male ; Mutation/*genetics ; Neoplasms, Germ Cell and Embryonal/*genetics/pathology ; Oncogene Protein v-akt/genetics ; Proto-Oncogene Proteins c-kit/genetics ; Reproducibility of Results ; Signal Transduction/genetics ; TOR Serine-Threonine Kinases/genetics ; Young Adult ; ras Proteins/geneticsPublished by: -
5Latest Papers from Table of Contents or Articles in PressW. Fu ; T. D. O'Connor ; G. Jun ; H. M. Kang ; G. Abecasis ; S. M. Leal ; S. Gabriel ; M. J. Rieder ; D. Altshuler ; J. Shendure ; D. A. Nickerson ; M. J. Bamshad ; J. M. Akey
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-12-04Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Africa/ethnology ; African Continental Ancestry Group/genetics ; Alleles ; Europe/ethnology ; European Continental Ancestry Group/genetics ; *Evolution, Molecular ; Exome/*genetics ; Exons/genetics ; Genetic Variation/*genetics ; Humans ; Open Reading Frames/*genetics ; Polymorphism, Single Nucleotide/genetics ; United StatesPublished by: -
6Latest Papers from Table of Contents or Articles in PressWerner, R. A., Bundschuh, R. A., Bundschuh, L., Javadi, M. S., Leal, J. P., Higuchi, T., Pienta, K. J., Buck, A. K., Pomper, M. G., Gorin, M. A., Lapa, C., Rowe, S. P.
The Society of Nuclear Medicine (SNM)
Published 2018Staff ViewPublication Date: 2018-12-04Publisher: The Society of Nuclear Medicine (SNM)Print ISSN: 0022-3123Topics: MedicinePublished by: -
7Articles: DFG German National LicensesApaydin, F. ; Pfister, M. ; Iber, M. ; Kandogan, T. ; Leal, S. M. ; Brändle, U. ; Cura, O. ; Zenner, H. P.
Springer
Published 1998Staff ViewISSN: 1433-0458Keywords: Schlüsselwörter Hereditäre Schwerhörigkeit ; Konsanguinität ; Key words Hereditary hearing loss ; Consanguinity ; Deafness in TurkeySource: Springer Online Journal Archives 1860-2000Topics: MedicineDescription / Table of Contents: Summary The authors describe a study in progress to identify Turkish families with hereditary hearing loss and isolate possible responsible disease genes. Due to extreme genetic heterogeneity and limited audiological differentiation of hereditary hearing loss, it is necessary to identify large or small families from genetic isolates to locate loci responsible for hearing loss on a chromosome. To accomplish this goal, the medical records of 3800 children were examined at the ENT Clinic of Ege University between 1975 and 1994. All were suspected of having various hearing impairments. Additionally, students from two schools for the hearing impaired in Izmir and Eskisehir, Turkey were examined. To date, 16 families with syndromal deafness and 55 families with non-syndromal hereditary hearing loss involving two or more affected individuals have been identified and categorized according to the mode of inheritance. The majority (66%) of the non-syndromal families showed an autosomal recessive pattern, 29% an autosomal dominant inheritance and 5% an X-linked mode of inheritance. In the study presented there has been a predominance of affected males versus females and the consanguinity rate was 22%.Notes: Zusammenfassung Die Häufigkeit von Taubheit im Kindesalter wird heute mit ca. 1/2000 angegeben und zu 60% auf genetische Ursachen zurückgeführt; 70% dieser tauben Kinder repräsentieren hierbei nicht-syndromale Hörstörungen. Die Lokalisierung und Identifizierung der zugrundeliegenden Gendefekte sind derzeit Gegenstand aktueller Forschungsprojekte. Entscheidend ist hierbei die klinische Dokumentation von Familien ausreichender Größe mit mehreren Betroffenen und die exakte audiometrische Evaluierung der Familien. Zu diesem Zweck wurden die Krankenakten von 3800 hörgeschädigten Kindern an der HNO-Klinik der Ege-Universität in Izmir analysiert und die Studenten zweier Schulen für Hörbehinderte im Raum Izmir untersucht. Ziel war hierbei die Identifikation von Familien mit hereditärer Schwerhörigkeit. Aufgrund dieser Untersuchungen konnten 55 Familien mit nicht-syndromaler und 16 Familien mit syndromaler Schwerhörigkeit identifiziert werden. Innerhalb der Familien mit nicht-syndromaler Schwerhörigkeit waren 12 mit einem autosomal-dominanten, 27 mit einem autosomal-rezessiven und 2 Familien mit einem x-gekoppelten Erbgang vereinbar. In 14 Familien war kein klarer Vererbungsmodus zu erkennen.Type of Medium: Electronic ResourceURL: