[PDF][PDF] Genotype-phenotype relationships in language processes in Rett Syndrome
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the
MECP2 gene affecting around 1 in 10,000 female births. Mutations in the MECP2 gene have …
MECP2 gene affecting around 1 in 10,000 female births. Mutations in the MECP2 gene have …
Aspects of speech‐language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
A Urbanowicz, J Downs, S Girdler… - American Journal of …, 2015 - Wiley Online Library
This study investigates relationships between methyl‐CpG‐binding protein 2 gene (MECP2)
mutation type and speech‐language abilities in girls with Rett syndrome. Cross‐sectional …
mutation type and speech‐language abilities in girls with Rett syndrome. Cross‐sectional …
Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome
I Kondo, H Yamagata - No to Hattatsu= Brain and Development, 2002 - europepmc.org
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder characterized
by regression in cognition and adaptability with autistic behavior, stereotypical hand …
by regression in cognition and adaptability with autistic behavior, stereotypical hand …
[PDF][PDF] Motor abilities are related to the specific genotype in Rett Syndrome
Rett syndrome (RTT) is a rare, neurodevelopmental genetic disorder that develops in early
childhood and influences many functions within neurobehavioural domains. The core of …
childhood and influences many functions within neurobehavioural domains. The core of …
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
A Renieri, F Mari, MA Mencarelli, E Scala, F Ariani… - Brain and …, 2009 - Elsevier
The preserved speech variant is the milder form of Rett syndrome: affected girls show the
same stages of this condition and by the second half of the first decade are making slow …
same stages of this condition and by the second half of the first decade are making slow …
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
P Huppke, F Laccone, N Krämer… - Human molecular …, 2000 - academic.oup.com
Only recently have mutations in MECP2 been found to be a cause of Rett Syndrome (RTT), a
neurodevelopmental disorder characterized by mental retardation, loss of expressive …
neurodevelopmental disorder characterized by mental retardation, loss of expressive …
Preserved speech variant is allelic of classic Rett syndrome
C De Bona, M Zappella, G Hayek, I Meloni… - European Journal of …, 2000 - nature.com
Rett syndrome is a neurological disorder affecting predominantly females with regression
loss of speech and purposeful hand use, after a few months of almost normal development …
loss of speech and purposeful hand use, after a few months of almost normal development …
[HTML][HTML] Changing the perspective on early development of Rett syndrome
PB Marschik, WE Kaufmann, J Sigafoos, T Wolin… - Research in …, 2013 - Elsevier
We delineated the achievement of early speech-language milestones in 15 young children
with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video …
with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video …
Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities
K Miura, T Kumagai, Y Suzuki, T Ohki… - No to Hattatsu= Brain …, 2005 - europepmc.org
Mutations in a gene on the X-chromosome encoding methyl-CpG-binding protein 2
(MECP2) cause Rett syndrome. We examined clinical symptoms of 27 patients with Rett …
(MECP2) cause Rett syndrome. We examined clinical symptoms of 27 patients with Rett …
Preserved speech variants of the Rett syndrome: molecular and clinical analysis
M Zappella, I Meloni, I Longo, G Hayek… - American journal of …, 2001 - Wiley Online Library
Mutations in the MECP2 gene cause the severe neurodevelopmental disorder called Rett
syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader …
syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader …
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