Language
English
German
^M
Dutch
Spanish
Title:
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Source:
European Journal of Human Genetics [1018-4813] Jones, Gabriela yr:2013
Basic
Full text
Full text available via
Nature
Year:
Volume:
Issue:
Start Page:
Full text available via
PubMed Central
Year:
Volume:
Issue:
Start Page:
Document delivery
Request document via
Library/Bibliothek
Users interested in this article also expressed an interest in the following:
description
1.
Kelly, Maria N.
"Microcephaly, Lymphedema, Chorioretinal Dysplasia (MLCRD) Syndrome."
Journal of pediatric health care
26.4 (2011): 306-311.
description
2.
Gelb, S D.
"Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome."
Nature genetics
29.4 (2002): 465-8.
description
3.
Montgomery, K.
"Germline gain-of-function mutations in SOS1 cause Noonan syndrome."
Nature genetics
39.1 (2007): 70-4.
description
4.
van der Burgt, I.
"Noonan syndrome."
Orphanet journal of rare diseases
2.2007 (2007): 4-4.
description
5.
Poretti, A.
"Acute Ataxia in Children: Approach to Clinical Presentation and Role of Additional Investigations."
Neuropediatrics
44.3 (2012): 127-141.
description
6.
Futaba, K.
"The foreskin: problems and pathology."
Surgery (Oxford)
28.8 (2010): 387-390.
description
7.
Halevy, A.
"Microcephaly-Thin Corpus Callosum Syndrome Maps to 8q23.2-q24.12."
Pediatric neurology
46.6 (2012): 363-368.
description
8.
Kucherlapati, M.
"PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity."
American journal of human genetics
70.6 (2002): 1555-63.
description
9.
Carey A Matsuba, Carey A.
"Long-term outcome of children with cortical visual impairment."
Developmental medicine and child neurology
48.6: 508-512.
description
10.
Seger, R.
"The extracellular signal-regulated kinase: multiple substrates regulate diverse cellular functions."
Growth factors
24.1 (2006): 21-44.
description
11.
Krauss, Melissa J J.
"Microcephaly: an epidemiologic analysis."
American journal of obstetrics and gynecology
188.6 (2003): 1484-9.
description
12.
Bollag, G.
"Hyperactive Ras in developmental disorders and cancer."
Nature reviews. Cancer
7.4 (2007): 295-308.
description
13.
Tartaglia, M.
"Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome."
Nature genetics
39.1 (2006): 75-9.
description
14.
Pandit, Bhaswati, B.
"Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy."
Nature genetics
39.8 (2007): 1007-1012.
description
15.
Candy, R.
"Recent advances in cortical visual impairment."
Developmental medicine and child neurology
43.1 (2000): 56-60.
description
16.
MYERS, D.
"REHABILITATION OF CORTICAL VISUAL IMPAIRMENT IN CHILDREN."
International journal of neuroscience
116.9: 1015-33.
description
17.
Shaw, A C C.
"The natural history of Noonan syndrome: a long-term follow-up study."
Archives of disease in childhood
92.2 (2006): 128-32.
description
18.
Desai, J.
"Acute Cerebellar Ataxia, Acute Cerebellitis, and Opsoclonus-Myoclonus Syndrome."
Journal of Child Neurology
27.11 (2012): 1482-1488.
description
19.
Laumann, E O.
"The Circumcision Dilemma."
Scientific American presents
(1999): 68-72.
description
20.
Iwamoto, R.
"ErbB and HB-EGF signaling in heart development and function."
Cell structure and function
31.1 (2006): 1-14.
View More...
View Less...
Select All
Clear All
Save Citations
Select Format
RefWorks
Reference Manager
EndNote
ProCite
Submit citation export
Advanced
Author
Other articles by this author? -- in
GeoRef
author:
Jones, Gabriela E
Ostergaard, Pia
Moore, Anthony T
Connell, Fiona C
Williams, Denise
Quarrell, Oliver
Brady, Angela F
Spier, Isabel
Hazan, Filiz
Moldovan, Oana
Wieczorek, Dagmar
Mikat, Barbara
Petit, Florence
Coubes, Christine
Saul, Robert A
Brice, Glen
Gordon, Kristiana
Jeffery, Steve
Mortimer, Peter S
Vasudevan, Pradeep C
Mansour, Sahar
last name
initials
Other articles by this author? -- in
Online Contents Geosciences
author:
Jones, Gabriela E
Ostergaard, Pia
Moore, Anthony T
Connell, Fiona C
Williams, Denise
Quarrell, Oliver
Brady, Angela F
Spier, Isabel
Hazan, Filiz
Moldovan, Oana
Wieczorek, Dagmar
Mikat, Barbara
Petit, Florence
Coubes, Christine
Saul, Robert A
Brice, Glen
Gordon, Kristiana
Jeffery, Steve
Mortimer, Peter S
Vasudevan, Pradeep C
Mansour, Sahar
last name
initials
Other articles by this author? -- using
Web of Science
author:
Jones, Gabriela E
Ostergaard, Pia
Moore, Anthony T
Connell, Fiona C
Williams, Denise
Quarrell, Oliver
Brady, Angela F
Spier, Isabel
Hazan, Filiz
Moldovan, Oana
Wieczorek, Dagmar
Mikat, Barbara
Petit, Florence
Coubes, Christine
Saul, Robert A
Brice, Glen
Gordon, Kristiana
Jeffery, Steve
Mortimer, Peter S
Vasudevan, Pradeep C
Mansour, Sahar
last name
initials
Web Search
Find related information in
a Web Search Engine
Excite
Google
HotBot
Ixquick
ZOO
Ask
Yahoo!
Bing
Naver
Search Terms:
Search for related information in
Google Scholar
Article Title
Author Name
Journal Title
Other Search
Search Terms:
A service provided by the
Library of the Wissenschaftspark Albert Einstein
, Potsdam, Germany.
© 2005 SFX by Ex Libris Inc.