Sotos syndrome

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[2]  N. Rahman,et al.  Familial gigantism caused by an NSD1 mutation , 2005, American journal of medical genetics. Part A.

[3]  N. Rahman,et al.  Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification , 2005, Journal of Medical Genetics.

[4]  A. Munnich,et al.  Clinical and molecular overlap in overgrowth syndromes , 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

[5]  F. Faravelli.  NSD1 mutations in Sotos syndrome , 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

[6]  P. Lapunzina.  Risk of tumorigenesis in overgrowth syndromes: A comprehensive review , 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

[7]  N. Rahman,et al.  Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. , 2005, American journal of human genetics.

[8]  Laura J. Ball,et al.  Speech‐language characteristics of children with Sotos syndrome , 2005, American journal of medical genetics. Part A.

[9]  G. Scarano,et al.  Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth , 2005, American journal of medical genetics. Part A.

[10]  N. Rahman,et al.  Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome , 2005, Journal of Medical Genetics.

[11]  N. Rahman,et al.  Evaluation of NSD2 and NSD3 in overgrowth syndromes , 2005, European Journal of Human Genetics.

[12]  E. Zackai,et al.  Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion , 2004, American journal of medical genetics. Part A.

[13]  N. Rahman,et al.  Clinical features of NSD1-positive Sotos syndrome , 2004, Clinical dysmorphology.

[14]  R. Hennekam,et al.  Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome , 2004, Hormone Research in Paediatrics.

[15]  N. Niikawa.  Molecular Basis of Sotos Syndrome , 2004, Hormone Research in Paediatrics.

[16]  H. V. van Duyvenvoorde,et al.  Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system. , 2004, European journal of endocrinology.

[17]  M. Compton,et al.  A Case of Sotos Syndrome (Cerebral Gigantism) and Psychosis , 2004, Psychopathology.

[18]  W. Carlo,et al.  Cervical Instability in Sotos Syndrome: A Case Report , 2004, Spine.

[19]  A. Munnich,et al.  Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. , 2004, American journal of human genetics.

[20]  A. Teebi,et al.  Cancer in Sotos syndrome: report of a patient with acute myelocytic leukemia and review of the literature. , 2004, Journal of pediatric hematology/oncology.

[21]  N. Matsumoto,et al.  Genetics of Sotos syndrome , 2003, Current opinion in pediatrics.

[22]  D. Horn,et al.  Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes , 2003, European Journal of Human Genetics.

[23]  E. Adhami,et al.  Anaesthesia in a child with Sotos syndrome , 2003, Paediatric anaesthesia.

[24]  Jan-Fang Cheng,et al.  Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion , 2003, Human mutation.

[25]  Pierre Chambon,et al.  NSD1 is essential for early post‐implantation development and has a catalytically active SET domain , 2003, The EMBO journal.

[26]  A. Munnich,et al.  Spectrum of NSD1 mutations in Sotos and Weaver syndromes , 2003, Journal of medical genetics.

[27]  N. Niikawa,et al.  Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions , 2003, Journal of medical genetics.

[28]  K. Sarimski.  Behavioural and emotional characteristics in children with Sotos syndrome and learning disabilities. , 2003, Developmental medicine and child neurology.

[29]  M. Cohen.  Mental deficiency, alterations in performance, and CNS abnormalities in Overgrowth syndromes , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

[30]  H. Vidaillet,et al.  Patient with Sotos syndrome, Wolff‐Parkinson‐White pattern on electrocardiogram, and two right‐sided accessory bypass tracts , 2003, American journal of medical genetics. Part A.

[31]  N. Matsumoto,et al.  Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene , 2003, Journal of medical genetics.

[32]  Chih-ping Chen,et al.  Perinatal imaging findings of inherited Sotos syndrome , 2002, Prenatal diagnosis.

[33]  M. Cohen.  Tumors and nontumors in Sotos syndrome. , 1999, American journal of medical genetics.

[34]  D. Ravine,et al.  Growth in Sotos syndrome , 1999, Archives of disease in childhood.

[35]  J. Opitz,et al.  The syndromes of Sotos and Weaver: reports and review. , 1998, American journal of medical genetics.

[36]  J. Bodensteiner,et al.  The neuroimaging findings in Sotos syndrome. , 1997, American journal of medical genetics.

[37]  R. Morgan,et al.  Congenital urological anomalies in Sotos syndrome. , 1995, British journal of urology.

[38]  H. Venema,et al.  Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome. , 1994, American journal of medical genetics.

[39]  T. Cole,et al.  Sotos syndrome: a study of the diagnostic criteria and natural history. , 1994, Journal of medical genetics.

[40]  D. Moretti-Ferreira,et al.  Cytogenetic evidence of involvement of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth. , 1993, DNA and Cell Biology.

[41]  S. Bertolone,et al.  Risk of malignancy in Sotos syndrome. , 1992, The Journal of pediatrics.

[42]  J. Fryns,et al.  Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) , 1990, Clinical genetics.

[43]  I. Winship.  Sotos syndrome — autosomal dominant inheritance substantiated , 1985, Clinical genetics.

[44]  J. Wit,et al.  Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases , 1985, European Journal of Pediatrics.

[45]  B. Schlesinger.  Gigantism (Acromegalic in Type) , 1931, Proceedings of the Royal Society of Medicine.

[46]  M. Matsuo,et al.  The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene. , 2006, The Kobe journal of medical sciences.

[47]  J. Schouten,et al.  Partial NSD 1 deletions cause 5 % of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification , 2005 .

[48]  P. Lapunzina,et al.  Follow-up and Risk of Tumors in Overgrowth Syndromes , 2005, Journal of pediatric endocrinology & metabolism : JPEM.

[49]  J. Wit,et al.  Plasma Insulin-Like Growth Factors (IGFs), IGF-Binding Proteins (IGFBPs), Acid-Labile Subunit (ALS) and IGFBP-3 Proteolysis in Individuals with Clinical Characteristics of Sotos Syndrome , 2004, Journal of pediatric endocrinology & metabolism : JPEM.

[50]  V. Ruggieri,et al.  [Behavioural phenotypes. Biologically determined neuropsychological patterns]. , 2003, Revista de neurología (Ed. impresa).

[51]  N. Rahman,et al.  NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. , 2003, American journal of human genetics.

[52]  黒滝 直弘.  私の論文から Haploinsufficiency of NSD1 causes Sotos syndrome , 2003 .

[53]  N. Niikawa,et al.  Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). , 2002, American journal of medical genetics.

[54]  M. Cohen.  CEREBRAL GIGANTISM IN CHILDHOOD. , 1964, The New England journal of medicine.