Your browser doesn't support javascript.
loading
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M R; Sullivan, Jennifer A; Asleh, Ayat N; Mitra, Jaba; Dar, Mohamad A; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R; Littlejohn, Rebecca Okashah; Dibra, Harpreet K; Byrd, Philip J; Stewart, Grant S; Geckinli, Bilgen B; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E; O'Donnell-Luria, Anne; Mau-Them, Frédéric Tran; Juven, Aurélien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F; Thauvin, Christel; Essien Umanah, George K; Van Maldergem, Lionel; Lupski, James R; Roscioli, Tony; Dawson, Valina L; Dawson, Ted M; Antonarakis, Stylianos E.
Afiliação
  • Serey-Gaut M; Centre de génétique humaine, Université de Franche-Comté, Besançon, France. Electronic address: sereymargaux@gmail.com.
  • Cortes M; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Makrythanasis P; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Gr
  • Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Taylor AMR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
  • Sullivan JA; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Asleh AN; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Mitra J; Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA.
  • Dar MA; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • McNamara A; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Shashi V; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Dugan S; Providence Medical Group Genetic Clinics, Spokane, WA, USA.
  • Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Cabrol C; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
  • Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.
  • Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; Computer-Aided Molecular Engineering, Department of Oncology, Ludwig Institute for Cancer Research Lausanne Branch, University of Lausanne, Lausanne, Switzerland.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France.
  • Akdemir ZC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; University Texas Health Science Center, Houston, TX 77030, USA.
  • Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Dibra HK; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
  • Byrd PJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
  • Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
  • Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
  • Posey J; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Westman R; Providence Medical Group Genetic Clinics, Spokane, WA, USA.
  • Jungbluth C; Providence Medical Group Genetic Clinics, Spokane, WA, USA.
  • Eason J; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Evans CA; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia.
  • Lemire G; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • VanNoy GE; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • O'Donnell-Luria A; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Mau-Them FT; UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Juven A; UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Piard J; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
  • Nixon CY; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia.
  • Zhu Y; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Ha T; Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA.
  • Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Thauvin C; INSERM UMR1231 GAD, Bourgogne Franche-Comté University, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.
  • Essien Umanah GK; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Besançon, France; Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), CHU, Besancon, France; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 770
  • Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Dawson VL; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Physiology, Johns Hopkins University School o
  • Dawson TM; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkin
  • Antonarakis SE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Medigenome
Am J Hum Genet ; 110(3): 499-515, 2023 03 02.
Article em En | MEDLINE | ID: mdl-36724785
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Microcefalia / Transtornos dos Movimentos Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Microcefalia / Transtornos dos Movimentos Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article