Guidelines for reporting clinical features in cases with MECP2 mutations

Brain and Development - Tập 23 Số 4 - Trang 208-211 - 2001
Alison Kerr1, Yoshiko Nomura2, Dawna Armstrong3, Maria Anvret4, Pavel V. Belichenko5, Sarojini Budden6, Hilary Cass7, John Christodoulou8, Angus Clarke9, Carolyn Ellaway8, Maurizio D’Esposito10, Uta Francke11, Maj Hultén12, Peter O.O. Julu13, Helen Leonard14, Sakkubai Naidu15, Carolyn Schanen16, T. Webb17, Ingegerd Witt Engerström18, Yushiro Yamashita19, Masaya Segawa2
1Department of Psychological Medicine, Gartnavel Royal Hospital, Glasgow G12 0XH, UK
2Segawa Neurological clinic for children, 2–8 Surugadai, Kanda, Chiyoda-ku, Tokyo 101-0062, Japan
3Department of Pathology, Baylor College of Medicine, Houston, TX USA
4Karolinska Institute, Stockholm, Sweden.
5Brain Research Institute, Moscow 107120, Russia
6Oregon Health Sciences University, Portland, OR, USA
7Great Ormond Street Hospitals, London, UK
8Department of Paediatrics and Child Health, Children's Hospital at Westmead, Sydney, Australia
9Department of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XW, UK
10CNR Institute Of Genetics And Biophysics, Stanford University School of Medicine. Stanford CA, USA
11Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, USA
12Department of Biological Sciences, University of Warwick, Coventry, CV47AL, UK.
13Central Middlesex Hospital, London, UK
14TVW Telethon Institute for Child Health Research and Disability Services Commission, West Perth, Western Australia
15Kennedy Institute, Baltimore MD, USA
16UCLA School of Medicine, Department of Human Genetics, Los Angeles CA 90095-7088, USA
17Department of Clinical Genetics, Birmingham Maternity Hospital, Birmingham, UK
18Rett Centre, Froso Strand, PO Box 601, SE-932 23 Froson, Sweden
19Department of Pediatrics & Child Health, Kurume University School of Medicine, 67 Asahi-machi, Fukuoka 830-0011, Japan

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Tài liệu tham khảo

Rett, 1966, Über ein Eigenartiges hirnatrophisches Syndrome bei Hyperammonämie in Kindsalter, Wiener Medizinische Wochenschrift, 116, 723

Amir, 1999, Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2, Nat Genet, 23, 185, 10.1038/13810

Nan, 1997, MECP2 is a transcriptional repressor with abundant binding sites in genomic chromatin, Cell, 88, 471, 10.1016/S0092-8674(00)81887-5

Cheadle, 2000, Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location, Hum Mol Genet, 9, 1119, 10.1093/hmg/9.7.1119

Obata, 2000, Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome, J Med Genet, 37, 0, 10.1136/jmg.37.8.608

Vacca, 2000, Mutation analysis of the MECP2 gene in British and Italian Rett syndrome families, J Mol Med

Clayton-Smith, 2000, Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males, Lancet, 356, 830, 10.1016/S0140-6736(00)02661-1

Meloni, 2000, A mutation in the Rett Syndrome gene MECP2 causes x-linked mental retardation and progressive spasticity in males, Am J Hum Genet, 67, 982, 10.1086/303078

Dragich, 2000, Rett Syndrome: a surprising result of mutation in MECP2, Hum Mol Genet, 9, 2365, 10.1093/hmg/9.16.2365

Dunnen, 2000, Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion, Hum Mutat, 15, 7, 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N

Kerr, 1995, Early clinical signs in the Rett disorder, Neuropediatrics, 26, 67, 10.1055/s-2007-979725

Hagberg, 1994, Rett variations a suggested model for inclusion criteria, Pediatr Neurol, 11, 5, 10.1016/0887-8994(94)90082-5

Hagberg, 1986, A suggested staging system for describing impairment profile with increasing age towards adolescence, Am J Med Genet, 24, 47, 10.1002/ajmg.1320250506

1988, The clinical recognition and differential diagnosis of Rett Syndrome, Ann Neurol, 23, 425, 10.1002/ana.410230432

Percy, 1992, Neurochemistry of the Rett Syndrome, Brain Dev, 14, S57

Leonard, 1998, Is the girl with Rett Syndrome normal at birth?, Dev Med Child Neurol, 40, 115, 10.1111/j.1469-8749.1998.tb15371.x

Naidu, 1997, Rett Syndrome: a disorder affecting early brain growth, Ann Neurol, 42, 3, 10.1002/ana.410420104

Nomura, 1990, Clinical features of the early stage of the Rett Syndrome, Brain Dev, 12, 16, 10.1016/S0387-7604(12)80167-7

Nomura, 1992, Motor symptoms of the Rett Syndrome: abnormal muscle tone, posture, locomotion and stereotyped movement, Development, 14, 21

Armstrong, 1995, The neuropathology of Rett Syndrome – overview 1994, Neuropediatrics, 26, 100, 10.1055/s-2007-979736

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Brain and Development

Tập 23 Số 4

208-211

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