Literature DB >> 12561058

Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes.

M Michael Cohen1.   

Abstract

Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes. Copyright 2003 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2003        PMID: 12561058     DOI: 10.1002/ajmg.c.10013

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  14 in total

1.  De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

Authors:  Johanna Schäfgen; Kirsten Cremer; Jessica Becker; Thomas Wieland; Alexander M Zink; Sarah Kim; Isabelle C Windheuser; Martina Kreiß; Stefan Aretz; Tim M Strom; Dagmar Wieczorek; Hartmut Engels
Journal:  Eur J Hum Genet       Date:  2016-07-20       Impact factor: 4.246

2.  Genetics: Fish heads and human disease.

Authors:  Dheeraj Malhotra; Jonathan Sebat
Journal:  Nature       Date:  2012-05-16       Impact factor: 49.962

Review 3.  The power and promise of identifying autism early: insights from the search for clinical and biological markers.

Authors:  Karen Pierce; Stephen J Glatt; Gregory S Liptak; Laura Lee McIntyre
Journal:  Ann Clin Psychiatry       Date:  2009 Jul-Sep       Impact factor: 1.567

Review 4.  Overgrowth Syndromes.

Authors:  Andrew C Edmondson; Jennifer M Kalish
Journal:  J Pediatr Genet       Date:  2015-09-25

Review 5.  Compared to what? Early brain overgrowth in autism and the perils of population norms.

Authors:  Armin Raznahan; Gregory L Wallace; Ligia Antezana; Dede Greenstein; Rhoshel Lenroot; Audrey Thurm; Marta Gozzi; Sarah Spence; Alex Martin; Susan E Swedo; Jay N Giedd
Journal:  Biol Psychiatry       Date:  2013-05-23       Impact factor: 13.382

6.  The first neurosurgical analysis of 8 korean children with sotos syndrome.

Authors:  Jae Joon Lim; Soo Han Yoon
Journal:  J Korean Neurosurg Soc       Date:  2008-10-30

7.  Macrocephaly as a clinical indicator of genetic subtypes in autism.

Authors:  Steven Klein; Pantea Sharifi-Hannauer; Julian A Martinez-Agosto
Journal:  Autism Res       Date:  2013-01-29       Impact factor: 5.216

Review 8.  From neural development to cognition: unexpected roles for chromatin.

Authors:  Jehnna L Ronan; Wei Wu; Gerald R Crabtree
Journal:  Nat Rev Genet       Date:  2013-04-09       Impact factor: 53.242

Review 9.  Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders.

Authors:  Gustavo Malinger; Dorit Lev; Tally Lerman-Sagie
Journal:  Reprod Biol Endocrinol       Date:  2003-11-14       Impact factor: 5.211

10.  Cognitive characteristics of PTEN hamartoma tumor syndromes.

Authors:  Robyn M Busch; Jessica S Chapin; Jessica Mester; Lisa Ferguson; Jennifer S Haut; Thomas W Frazier; Charis Eng
Journal:  Genet Med       Date:  2013-03-07       Impact factor: 8.822

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.