scholarly journals EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

2014 ◽  
Vol 9 (1) ◽  
pp. 23 ◽  
Author(s):  
Veerle RC Eggens ◽  
Peter G Barth ◽  
Jikke-Mien F Niermeijer ◽  
Jonathan N Berg ◽  
Niklas Darin ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia ◽  
Novel Mutations

scholarly journals Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

PLoS ONE ◽  
2013 ◽  
Vol 8 (6) ◽  
pp. e65676 ◽  
Author(s):  
Jian Wang ◽  
Tingting Yu ◽  
Lei Yin ◽  
Jing Li ◽  
Li Yu ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Pseudohypoaldosteronism Type

Pontocerebellar Hypoplasia Type 1: New Leads for an Earlier Diagnosis

2003 ◽  
Vol 18 (3) ◽  
pp. 220-225 ◽  
Author(s):  
Michael S. Salman ◽  
Susan Blaser ◽  
J. Raymond Buncic ◽  
Carol A. Westall ◽  
Elise Héon ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia

HomozygousEXOSC3Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

2013 ◽  
Vol 27 (4) ◽  
pp. 163-169 ◽  
Author(s):  
Jaroslava Schwabova ◽  
Dana Safka Brozkova ◽  
Borivoj Petrak ◽  
Mahulena Mojzisova ◽  
Klara Pavlickova ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Pontocerebellar Hypoplasia

Characterization of 11 New Cases of Leukocyte Adhesion Deficiency Type 1 with Seven Novel Mutations in the ITGB2 Gene

2010 ◽  
Vol 30 (5) ◽  
pp. 756-760 ◽  
Author(s):  
Nima Parvaneh ◽  
Setareh Mamishi ◽  
Amir Rezaei ◽  
Nima Rezaei ◽  
Banafshe Tamizifar ◽  
...  
Keyword(s):  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Novel Mutations ◽  
Deficiency Type

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1

2018 ◽  
Vol 110 (6) ◽  
pp. 538-542 ◽  
Author(s):  
Séverine Bacrot ◽  
Charlotte Mechler ◽  
Naima Talhi ◽  
Dominique Martin-Coignard ◽  
Philippe Roth ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pontocerebellar Hypoplasia ◽  
Whole Exome

scholarly journals Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

2014 ◽  
pp. 129-129
Author(s):  
Neerja Gupta ◽  
Pawan Kumar Singh ◽  
Manoj Kumar ◽  
Shivaram Shastri ◽  
Sheffali Gulati ◽  
...  
Keyword(s):  
Molecular Profile ◽  
Novel Mutations ◽  
Indian Patients

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

2020 ◽  
Vol 35 (6) ◽  
pp. 1009-1016 ◽  
Author(s):  
Marina V. Kurkina ◽  
Svetlana V. Mihaylova ◽  
Galina V. Baydakova ◽  
Elena V. Saifullina ◽  
Sergey A. Korostelev ◽  
...  
Keyword(s):  
Biochemical Study ◽  
Glutaric Aciduria Type ◽  
Novel Mutations ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

A Mild Variant of Pontocerebellar Hypoplasia Type 1 in a 12-Year-Old Indian Boy

2009 ◽  
Vol 40 (4) ◽  
pp. 302-305 ◽  
Author(s):  
Devadathan Kalpana ◽  
Lalitha Parvathy ◽  
Shahanaz M. Ahamed ◽  
Mary Iype ◽  
Mohammed P.A. Kunju
Keyword(s):  
Pontocerebellar Hypoplasia
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