EARLY PRENATAL DIAGNOSIS OF FANCONI ANAEMIA IN A TWIN PREGNANCY, USING DNA ANALYSIS

Autor: P. A. In 'T Veld, K. Madan, A. R. Van Der Horst, Nieuwint Aw, L. P. Ten Kate, Fré Arwert, J.M.G. van Vugt, G. Pals, J.R. Lo Ten Foe, M. L. Kwee

Publikováno v: Prenatal Diagnosis. 16:345-348

We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c7504a487dd94a9bb1937eb6e9c0873
https://doi.org/10.1002/(sici)1097-0223(199604)16:4<345::aid-pd852>3.0.co

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Autor: Redin C; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Brand H; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Collins RL; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts, USA., Kammin T; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Mitchell E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Hodge JC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Department of Pediatrics, University of California, Los Angeles, Los Angeles, California, USA., Hanscom C; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Pillalamarri V; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Seabra CM; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; GABBA Program, University of Porto, Porto, Portugal., Abbott MA; Medical Genetics, Baystate Medical Center, Springfield, Massachusetts, USA., Abdul-Rahman OA; Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA., Aberg E; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Adley R; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Alcaraz-Estrada SL; Medical Genomics Division, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., An Y; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Institutes of Biomedical Sciences (IBS) of Shanghai Medical School and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China., Anderson MA; Center for Human Genetic Research DNA and Tissue Culture Resource, Boston, Massachusetts, USA., Antolik C; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Anyane-Yeboa K; Division of Clinical Genetics, Columbia University Medical Center, New York, New York, USA., Atkin JF; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio, USA., Bartell T; Department of Genetics, Kaiser Permanente, Sacramento, California, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Beyer E; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA., Blumenthal I; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Bongers EM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Brilstra EH; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Brown CW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Genetics, Texas Children's Hospital, Houston, Texas, USA., Brüggenwirth HT; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands., Callewaert B; Center for Medical Genetics, Ghent University, Ghent, Belgium., Chiang C; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Corning K; Greenwood Genetic Center, Columbia, South Carolina, USA., Cox H; West Midlands Regional Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK., Cuppen E; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Currall BB; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Cushing T; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, University of New Mexico, Albuquerque, New Mexico, USA., David D; Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Lisbon, Portugal., Deardorff MA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dheedene A; Center for Medical Genetics, Ghent University, Ghent, Belgium., D'Hooghe M; Department of Neurology and Child Neurology, Algemeen Ziekenhuis Sint-Jan, Brugge, Belgium., de Vries BB; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Earl DL; Seattle Children's, Seattle, Washington, USA., Ferguson HL; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Fisher H; Mount Sinai West Hospital, New York, New York, USA., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK., Gerrol P; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Giachino D; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., Glessner JT; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Gliem T; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Grady M; UW Cancer Center at ProHealth Care, Waukesha, Wisconsin, USA., Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Genetics, Texas Children's Hospital, Houston, Texas, USA., Griffis C; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA., Gripp KW; Sidney Kimmel Medical School at Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Gropman AL; Division of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, DC, USA., Hanson-Kahn A; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA., Harris DJ; Division of Genetics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Hayden MA; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Hill R; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Hochstenbach R; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Hoffman JD; Division of Genetics, Department of Pediatrics, Boston Medical Center, Boston, Massachusetts, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hubshman MW; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Irons M; Academic Affairs, American Board of Medical Specialties, Chicago, Illinois, USA., Irving M; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Division of Medical and Molecular Genetics, King's College London, London, UK., Jacobsen JC; Centre for Brain Research and School of Biological Sciences, University of Auckland, Auckland, New Zealand., Janssens S; Center for Medical Genetics, Ghent University, Ghent, Belgium., Jewett T; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Johnson JP; Department of Molecular Genetics, Shodair Children's Hospital, Helena, Montana, USA., Jongmans MC; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Kahler SG; Division of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas, USA., Koolen DA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Korzelius J; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Kroisel PM; Institute of Human Genetics, Medical University of Graz, Graz, Austria., Lacassie Y; Department of Pediatrics, Louisiana State University Health Sciences Center (LSUHSC) and Children's Hospital, New Orleans, Louisiana, USA., Lawless W; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Lemyre E; Department of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, Quebec, Canada., Leppig K; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.; Clinical Genetics, Group Health Cooperative, Seattle, Washington, USA., Levin AV; Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Li H; Center for Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Li H; Center for Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Liao EC; Center for Regenerative Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Division of Plastic and Reconstructive Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA.; Harvard Stem Cell Institute, Cambridge, Massachusetts, USA., Lim C; Division of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas, USA.; Virginia G. Piper Cancer Center at HonorHealth, Scottsdale, Arizona, USA., Lose EJ; Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, Alabama, USA., Lucente D; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Macera MJ; Clinical Cytogenetics Laboratory, New York-Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA., Manavalan P; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Mandrile G; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., Marcelis CL; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Margolin L; Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Mason T; Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Masser-Frye D; Department of Genetics, Rady Children's Hospital, San Diego, California, USA., McClellan MW; Department of Obstetrics and Gynecology, Madigan Army Medical Center, Tacoma, Washington, USA., Mendoza CJ; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Menten B; Center for Medical Genetics, Ghent University, Ghent, Belgium., Middelkamp S; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Mikami LR; Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.; Centro Universitário Autônomo do Brasil (Unibrasil), Curitiba, Brazil., Moe E; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA., Mohammed S; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Mononen T; Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland., Mortenson ME; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Novant Health Derrick L. Davis Cancer Center, Winston-Salem, North Carolina, USA., Moya G; GENOS Laboratory, Buenos Aires, Argentina., Nieuwint AW; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Ordulu Z; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Parkash S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada., Pauker SP; Harvard Medical School, Boston, Massachusetts, USA.; Medical Genetics, Harvard Vanguard Medical Associates, Watertown, Massachusetts, USA., Pereira S; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Perrin D; Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Phelan K; Hayward Genetics Program, Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana, USA., Aguilar RE; Medical Genomics Division, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico.; School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK., Poddighe PJ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Pregno G; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., Raskin S; Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil., Reis L; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Research Institute, Milwaukee, Wisconsin, USA., Rhead W; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Rita D; Midwest Diagnostic Pathology, Aurora Clinical Labs, Rosemont, Illinois, USA., Renkens I; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Roelens F; Algemeen Ziekenhuis Delta, Roeselare, Belgium., Ruliera J; Center for Human Genetic Research DNA and Tissue Culture Resource, Boston, Massachusetts, USA., Rump P; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Schilit SL; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sparkes R; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Spiegel E; Division of Maternal Fetal Medicine, Columbia University Medical Center, New York, New York, USA., Stevens B; McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas, USA., Stone MR; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Tagoe J; Genetic Services, Alberta Health Services, Lethbridge, Alberta, Canada., Thakuria JV; Harvard Medical School, Boston, Massachusetts, USA.; Division of Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA., van Bon BW; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., van de Kamp J; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., van Der Burgt I; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., van Essen T; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., van Ravenswaaij-Arts CM; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., van Roosmalen MJ; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Vergult S; Center for Medical Genetics, Ghent University, Ghent, Belgium., Volker-Touw CM; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Warburton DP; Division of Clinical Genetics, Columbia University Medical Center, New York, New York, USA., Waterman MJ; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Biology, Eastern Nazarene College, Quincy, Massachusetts, USA., Wiley S; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinatti, Ohio, USA., Wilson A; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Yerena-de Vega MC; Laboratory of Genetics, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico., Zori RT; Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida, USA., Levy B; Department of Pathology, Columbia University, New York, New York, USA., Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, and Grow School of Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Kloosterman WP; Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Thorland EC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Morton CC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Gusella JF; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Talkowski ME; Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

Publikováno v: Nature genetics [Nat Genet] 2017 Jan; Vol. 49 (1), pp. 36-45. Date of Electronic Publication: 2016 Nov 14.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Autor: Nota B; Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, 1081 HV Amsterdam, the Netherlands. benjamin.nota@gmail.com, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS

Publikováno v: American journal of human genetics [Am J Hum Genet] 2013 Apr 04; Vol. 92 (4), pp. 627-31.

Diagnosis of fanconi anemia: chromosomal breakage analysis.

Autor: Oostra AB; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands., Nieuwint AW, Joenje H, de Winter JP

Publikováno v: Anemia [Anemia] 2012; Vol. 2012, pp. 238731. Date of Electronic Publication: 2012 May 24.

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.

Autor: Stoepker C; Department of Clinical Genetics, Vrije Universiteit (VU) Medical Center, Amsterdam, The Netherlands., Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, Steltenpool J, Oostra AB, Eirich K, Korthof ET, Nieuwint AW, Jaspers NG, Bettecken T, Joenje H, Schindler D, Rouse J, de Winter JP

Publikováno v: Nature genetics [Nat Genet] 2011 Feb; Vol. 43 (2), pp. 138-41. Date of Electronic Publication: 2011 Jan 16.