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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini, Pamela; Smits, Daphne J; Vandervore, Laura; Schot, Rachel; Columbaro, Marta; Kasteleijn, Esmee; van der Ent, Mees; Palombo, Flavia; Lequin, Maarten H; Dremmen, Marjolein; de Wit, Marie Claire Y; Severino, Mariasavina; Divizia, Maria Teresa; Striano, Pasquale; Ordonez-Herrera, Natalia; Alhashem, Amal; Al Fares, Ahmed; Al Ghamdi, Malak; Rolfs, Arndt; Bauer, Peter; Demmers, Jeroen; Verheijen, Frans W; Wilke, Martina; van Slegtenhorst, Marjon; van der Spek, Peter J; Seri, Marco; Jansen, Anna C; Stottmann, Rolf W; Hufnagel, Robert B; Hopkin, Robert J; Aljeaid, Deema; Wiszniewski, Wojciech; Gawlinski, Pawel; Laure-Kamionowska, Milena; Alkuraya, Fowzan S; Akleh, Hanah; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G; Zaki, Maha S; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Davidov, Bella; Basel-Salmon, Lina; Bazak, Lily; Shahar, Noa Ruhrman; Bertoli-Avella, Aida; Mirzaa, Ghayda M; Dobyns, William B; Pippucci, Tommaso.
Afiliação
  • Magini P; Medical Genetics Unit, S.Orsola-Malpighi Hospital, via Massarenti 9, 40138 Bologna, Italy.
  • Smits DJ; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Vandervore L; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands; Vrije Universiteit Brussel, Centrum Medische Genetica, Laarbeeklaan 101, 1090 Brussels, Belgium.
  • Schot R; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Columbaro M; Laboratory of Musculoskeletal Cell Biology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
  • Kasteleijn E; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • van der Ent M; Department of Cell Biology, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Palombo F; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, 40139 Bologna, Italy.
  • Lequin MH; Department of Radiology, University medical center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.
  • Dremmen M; Department of Radiology, Sophia Children's hospital, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • de Wit MCY; Department of Child Neurology, Sophia Children's hospital, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Divizia MT; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Striano P; Pediatric Neurology and Muscular diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy; Department of neursciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16126 Genova, Italy.
  • Ordonez-Herrera N; CENTOGENE AG. Am Strande 7, 18055 Rostock, Germany.
  • Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia; Department of Pediatrics, College of Medicine, Qassim University, Qassim 52571, Saudi Arabia.
  • Al Fares A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia; Department of Pediatrics, College of Medicine, Qassim University, Qassim 52571, Saudi Arabia.
  • Al Ghamdi M; Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11451, Saudi Arabia.
  • Rolfs A; CENTOGENE AG. Am Strande 7, 18055 Rostock, Germany.
  • Bauer P; CENTOGENE AG. Am Strande 7, 18055 Rostock, Germany.
  • Demmers J; Proteomics Center, Room Ee-679A, Erasmus University Medical Center. Wytemaweg 80, 3015 CN Rotterdam, the Netherlands.
  • Verheijen FW; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • Wilke M; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • van Slegtenhorst M; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
  • van der Spek PJ; Department of Pathology, Clinical Bioinformatics, ErasmusMC University Medical Center PO Box, 3000CA Rotterdam, the Netherlands.
  • Seri M; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, via Massarenti 9, 40138 Bologna, Italy.
  • Jansen AC; Vrije Universiteit Brussel, Centrum Medische Genetica, Laarbeeklaan 101, 1090 Brussels, Belgium; Pediatric Neurology Unit, UZ Univeristy of Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
  • Stottmann RW; Department of Human Genetics, Division of Developmental Biology Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA.
  • Hufnagel RB; Medical Genetics and Ophthalmic Genomics Unit, National Eye Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 10N109, Bethesda, MD 20892, USA.
  • Hopkin RJ; Department of Human Genetics, Division of Developmental Biology Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati, College of Medicine, 3333 Burnet Ave., ML 4006, Cincinnati, OH 45229, USA.
  • Aljeaid D; Department of Human Genetics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
  • Wiszniewski W; Oregon Health & Sciences University, 3181 SW Sam Jackson Park Road L103, Portland, OR, USA; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland.
  • Gawlinski P; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland.
  • Laure-Kamionowska M; Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre Polish Academy of Sciences, Pawinskiego 5, 02-106 Warsaw, Poland.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Akleh H; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.
  • Stanley V; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA 92093, USA.
  • Musaev D; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA 92093, USA.
  • Gleeson JG; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA 92093, USA.
  • Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt.
  • Brunetti-Pierri N; Department of Translational Medicine, University of Naples "Federico II," Naples 80131, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.
  • Cappuccio G; Department of Translational Medicine, University of Naples "Federico II," Naples 80131, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.
  • Davidov B; Department of Medical Genetics, Recanati Genetic Institute Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100 Tel Aviv, Israel.
  • Basel-Salmon L; Department of Medical Genetics, Recanati Genetic Institute Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100 Tel Aviv, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
  • Bazak L; Department of Medical Genetics, Recanati Genetic Institute Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100 Tel Aviv, Israel.
  • Shahar NR; Department of Medical Genetics, Recanati Genetic Institute Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100 Tel Aviv, Israel.
  • Bertoli-Avella A; CENTOGENE AG. Am Strande 7, 18055 Rostock, Germany.
  • Mirzaa GM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Pippucci T; Medical Genetics Unit, S.Orsola-Malpighi Hospital, via Massarenti 9, 40138 Bologna, Italy. Electronic address: tommaso.pippucci@gmail.com.
Am J Hum Genet ; 105(4): 689-705, 2019 10 03.
Article em En | MEDLINE | ID: mdl-31495489
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Esfingomielina Fosfodiesterase / Transtornos do Neurodesenvolvimento / Microcefalia Tipo de estudo: Etiology_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Esfingomielina Fosfodiesterase / Transtornos do Neurodesenvolvimento / Microcefalia Tipo de estudo: Etiology_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália País de publicação: Estados Unidos