Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

Human Genetics ◽

10.1007/s00439-021-02405-w ◽

2021 ◽

Author(s):

Aisen V. Solovyev ◽

Alena Kushniarevich ◽

Elena Bliznetz ◽

Marita Bady-Khoo ◽

Maria R. Lalayants ◽

...

Keyword(s):

Splice Site ◽

Founder Effect ◽

Autosomal Recessive ◽

Gjb2 Gene ◽

C 23 ◽

Common Founder ◽

Splice Site Variant

A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

European Journal of Dermatology ◽

10.1684/ejd.2012.1731 ◽

2012 ◽

Vol 22 (4) ◽

pp. 464-466 ◽

Cited By ~ 1

Author(s):

Aysha Azhar ◽

Muhammad Tariq ◽

Shahid Mahmood Baig ◽

Niklas Dahl ◽

Joakim Klar

Keyword(s):

Lysophosphatidic Acid ◽

Founder Effect ◽

Autosomal Recessive ◽

Novel Mutation ◽

Acid Receptor ◽

Lysophosphatidic Acid Receptor

Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

10.1016/j.nmd.2015.11.012 ◽

2016 ◽

Vol 26 (2) ◽

pp. 111-125 ◽

Cited By ~ 18

Author(s):

Volker Straub ◽

Marta Bertoli

Keyword(s):

Autosomal Recessive ◽

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

10.1016/s0960-8966(00)00154-1 ◽

2001 ◽

Vol 11 (1) ◽

pp. 80-87 ◽

Cited By ~ 36

Author(s):

Robert Pogue ◽

Louise V.B Anderson ◽

Angela Pyle ◽

Caroline Sewry ◽

Christine Pollitt ◽

...

Keyword(s):

Mutation Analysis ◽

Autosomal Recessive ◽

Decision letter for "Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients."

10.1111/cge.13544/v3/decision1 ◽

2019 ◽

Keyword(s):

The Netherlands ◽

Autosomal Recessive ◽

Molecular Spectrum ◽

Review for "Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients."

10.1111/cge.13544/v1/review3 ◽

2019 ◽

Keyword(s):

The Netherlands ◽

Autosomal Recessive ◽

Molecular Spectrum ◽

Decision letter for "Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients."

10.1111/cge.13544/v1/decision1 ◽

2019 ◽

Keyword(s):

The Netherlands ◽

Autosomal Recessive ◽

Molecular Spectrum ◽

The role and spectrum ofSLC26A4mutations in Iranian patients with autosomal recessive hereditary deafness

International Journal of Audiology ◽

10.3109/14992027.2014.944276 ◽

2014 ◽

Vol 54 (2) ◽

pp. 124-130 ◽

Cited By ~ 11

Author(s):

Nasrin Yazdanpanahi ◽

Mohammad Amin Tabatabaiefar ◽

Nader Bagheri ◽

Fatemeh Azadegan Dehkordi ◽

Effat Farrokhi ◽

...

Keyword(s):

Autosomal Recessive ◽

Hereditary Deafness ◽

Iranian Patients

Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

10.1016/0960-8966(96)88956-5 ◽

1996 ◽

Vol 6 (2) ◽

pp. S7

Author(s):

J.S. Beckmann ◽

I. Richard ◽

O. Broux ◽

F. Fougerousse ◽

N. Bourg ◽

...

Keyword(s):

Autosomal Recessive ◽

The 10 autosomal recessive limb-girdle muscular dystrophies

10.1016/s0960-8966(03)00100-7 ◽

2003 ◽

Vol 13 (7-8) ◽

pp. 532-544 ◽

Cited By ~ 80

Author(s):

Mayana Zatz ◽

Flavia de Paula ◽

Alessandra Starling ◽

Mariz Vainzof

Keyword(s):

Autosomal Recessive ◽