Arama Sonuçları - Carlos A. Bacino

Sonuçları Daraltın
  1. 1
    <i>WDR35</i> mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

    <i>WDR35</i> mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype Yazar: Carlos A. Bacino, Shweta U. Dhar, Nicola Brunetti‐Pierri, Brendan Lee, Penelope E. Bonnen

    Baskı/Yayın Bilgisi 2012
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  2. 2
    Missense variants in the middle domain of<i>DNM1L</i>in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in<i>Drosophila</i>

    Missense variants in the middle domain of<i>DNM1L</i>in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in<i>Drosophila</i> Yazar: Yu-Hsin Chao, Laurie Robak, Fan Xia, Mary Kay Koenig, Adekunle Adesina, Carlos A. Bacino, Fernando Scaglia, Hugo J. Bellen, Michael F. Wangler

    Baskı/Yayın Bilgisi 2016
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  3. 3
    Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

    Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia Yazar: Christian P. Schaaf, Robin P. Goin‐Kochel, Kerri P. Nowell, Jill V. Hunter, Kirk Aleck, Sarah K. Cox, Ankita Patel, Carlos A. Bacino, Marwan Shinawi

    Baskı/Yayın Bilgisi 2010
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  4. 4
    Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

    Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome Yazar: Heidi A. Heilstedt, Blake C. Ballif, L A Howard, Richard A. Lewis, Samuel Stal, Catherine D. Kashork, Carlos A. Bacino, Stuart K. Shapira, Lisa G. Shaffer

    Baskı/Yayın Bilgisi 2003
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  5. 5
    Alterations in white matter pathways in Angelman syndrome

    Alterations in white matter pathways in Angelman syndrome Yazar: Sarika U. Peters, Walter E. Kaufmann, Carlos A. Bacino, Adam W. Anderson, Pavani Adapa, Zili D. Chu, Ragini Yallampalli, Elfrides Traipe, Jill V. Hunter, Elisabeth A. Wilde

    Baskı/Yayın Bilgisi 2010
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  6. 6
    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations Yazar: Trilochan Sahoo, Carlos A. Bacino, Jennifer R. German, Chad A. Shaw, Lynne M. Bird, Virginia Kimonis, Irinia Anselm, Susan E. Waisbren, Arthur L. Beaudet, Sarika U. Peters

    Baskı/Yayın Bilgisi 2007
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  7. 7
    A Quantitative Trait Locus on Chromosome 18q for Physical Activity and Dietary Intake in Hispanic Children

    A Quantitative Trait Locus on Chromosome 18q for Physical Activity and Dietary Intake in Hispanic Children Yazar: Guowen Cai, Shelley A. Cole, Nancy F. Butte, Carlos A. Bacino, Vincent P. Diego, Karen Tan, Harald H.H. Göring, Stephen O’Rahilly, I. Sadaf Farooqi, Anthony G. Comuzzie

    Baskı/Yayın Bilgisi 2006
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  8. 8
    Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

    Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia Yazar: Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi I Dagli, Carlos A. Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung‐Hae Kang

    Baskı/Yayın Bilgisi 2009
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  9. 9
    Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

    Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? Yazar: Weimin Bi, Caroline Borgan, Amber N. Pursley, Patricia Hixson, Chad A. Shaw, Carlos A. Bacino, Seema R. Lalani, Ankita Patel, Paweł Stankiewicz, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung

    Baskı/Yayın Bilgisi 2012
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  10. 10
    Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

    Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency Yazar: Paolo Moretti, Sarika U. Peters, Daniela del Gaudio, Trilochan Sahoo, Keith Hyland, Teodoro Bottiglieri, Robert J. Hopkin, Elizabeth Peach, Sang Hee Min, David Goldman, Benjamin B. Roa, Carlos A. Bacino, Fernando Scaglia

    Baskı/Yayın Bilgisi 2007
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  11. 11
    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis

    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis Yazar: Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, François Bernier, FORGE Canada Consortium, Jillian S. Parboosingh, A. Micheil Innes

    Baskı/Yayın Bilgisi 2012
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  12. 12
    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome Yazar: Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica H. Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema‐Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

    Baskı/Yayın Bilgisi 2009
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  13. 13
    Insertional translocation detected using FISH confirmation of array‐comparative genomic hybridization (aCGH) results

    Insertional translocation detected using FISH confirmation of array‐comparative genomic hybridization (aCGH) results Yazar: Sung‐Hae Kang, Chad A. Shaw, Zhishuo Ou, Patricia A. Eng, M. Lance Cooper, Amber N. Pursley, Trilochan Sahoo, Carlos A. Bacino, A. Craig Chinault, Paweł Stankiewicz, Ankita Patel, James R. Lupski, Sau Wai Cheung

    Baskı/Yayın Bilgisi 2010
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  14. 14
    Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

    Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease Yazar: Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek, Deborah Bartholdi, Dunja Niedrist, Francesco Papadia, Carlos A. Bacino, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Martijn H. Breuning, Raoul C. M. Hennekam, Dorien J.M. Peters

    Baskı/Yayın Bilgisi 2005
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  15. 15
    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene Yazar: Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala‐Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, Daniel H. Cohn

    Baskı/Yayın Bilgisi 2010
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  16. 16
    Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

    Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 Yazar: Shen Gu, Bo Yuan, Ian M. Campbell, Christine R. Beck, Claudia M.B. Carvalho, Sandesh C.S. Nagamani, Ayelet Erez, Ankita Patel, Carlos A. Bacino, Chad A. Shaw, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, James R. Lupski

    Baskı/Yayın Bilgisi 2015
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  17. 17
    Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

    Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases Yazar: Justin Pham, Chad A. Shaw, Amber N. Pursley, Patricia Hixson, Srirangan Sampath, Erin K. Roney, Tomasz Gambin, Sung‐Hae Kang, Weimin Bi, Seema R. Lalani, Carlos A. Bacino, James R. Lupski, Paweł Stankiewicz, Ankita Patel, Sau-Wai Cheung

    Baskı/Yayın Bilgisi 2014
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  18. 18
    Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

    Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia Yazar: Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara Funari, Carlos A. Bacino, Mira Irons, Ingrid A. Holm, Laurie S. Sadler, Ericka Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn

    Baskı/Yayın Bilgisi 2009
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  19. 19
    1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

    1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency Yazar: Natália D. Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa do Carmo Lisboa Cardenas, Heloísa B. Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos A. Bacino, Bruno Delobel, Paul A. James, Ann‐Charlotte Thuresson, Göran Annerén, Sérgio D.J. Pena

    Baskı/Yayın Bilgisi 2016
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  20. 20
    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations Yazar: Jennifer Gentile, Wen‐Hann Tan, Lucia T. Horowitz, Carlos A. Bacino, Steven A. Skinner, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Hye‐Seung Lee, Trilochan Sahoo, Susan E. Waisbren, Lynne M. Bird, Sarika U. Peters

    Baskı/Yayın Bilgisi 2010
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:

Arama Araçları: