Sage Journals: Discover world-class research

Retricted access

Research article

First published 2007-06

A New 6-bp SOX-3 Polyalanine Tract Deletion Does Not Segregate with Mental Retardation

Michele Salemi, Corrado Romano, Letizia Ragusa [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2023-05-02

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion

Yoshiaki Takahashi, Nobutoshi Morimoto, Tomoaki Nada [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2010-1

Genetic investigation of FOXE1 polyalanine tract in thyroid diseases: New insight on the role of FOXE1 in thyroid carcinoma

Rihab Kallel, Salima Belguith-Maalej, Abdelmounaim Akdi [...]

Cancer Biomarkers

Retricted access

Research article

First published 2017-02

Genotype Analyses in the Japanese and Belarusian Populations Reveal Independent Effects of rs965513 and rs1867277 but Do Not Support the Role of FOXE1 Polyalanine Tract Length in Conferring Risk for Papillary Thyroid Carcinoma

Alyaksandr V. Nikitski, Tatiana I. Rogounovitch, Andrey Bychkov [...]

Thyroid®

Retricted access

Research article

First published 2004-08

Genetic Analysis of TTF-2 Gene in Children with Congenital Hypothyroidism and Cleft Palate,Congenital Hypothyroidism,or Isolated Cleft Palate

Massimo Tonacchera, Mariaelena Banco, Paola Lapi [...]

Thyroid®

Retricted access

Other

First published 2007-06

A Novel Mutation of the ARX Gene in a Male With Nonsyndromic Mental Retardation

Matthew M. Troester, Tamara Trachtenberg, Vinodh Narayanan

Journal of Child Neurology

Retricted access

Letter

First published 2010-02

Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

Ibtissem Chouchene, Kaouthar Derouiche, Afif Chaabouni [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Other

First published 2008-03

Haddad Syndrome: A Case of an Infant With Central Congenital Hypoventilation Syndrome and Hirschsprung Disease

Daniel Lai, Brian Schroer

Journal of Child Neurology

Retricted access

Other

First published 2005-04

X-Linked Lissencephaly With Abnormal Genitalia as a Tangential Migration Disorder Causing Intractable Epilepsy: Proposal for a New Term,“Interneuronopathy”

Mitsuhiro Kato, William B. Dobyns

Journal of Child Neurology

Retricted access

Other

First published 2004-03

X-Linked Lissencephaly With Abnormal Genitalia as a Tangential Migration Disorder Causing Intractable Epilepsy: Proposal for a New Term,“Interneuronopathy”

Mitsuhiro Kato, William B. Dobyns

Journal of Child Neurology

Search results