scholarly journals Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family

2019 ◽  
Vol 31 (5) ◽  
pp. 581
Author(s):  
Noreen Karim ◽  
Javed Iqbal ◽  
Muhammad Naeem
Keyword(s):  
Autosomal Recessive ◽  
Pakistani Family ◽  
Lamellar Ichthyosis ◽  
Recessive Ichthyosis

scholarly journals A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

2014 ◽  
Vol 23 (22) ◽  
pp. 5940-5949 ◽  
Author(s):  
Muzammil A. Khan ◽  
Verena M. Rupp ◽  
Meritxell Orpinell ◽  
Muhammad S. Hussain ◽  
Janine Altmüller ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Pakistani Family ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

Neurogenetics ◽  
2011 ◽  
Vol 12 (3) ◽  
pp. 247-251 ◽  
Author(s):  
Shoaib ur Rehman ◽  
Shahid Mahmood Baig ◽  
Hans Eiberg ◽  
Sijad ur Rehman ◽  
Ilyas Ahmad ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Pakistani Family ◽  
Autozygosity Mapping

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency

2018 ◽  
Vol 93 (6) ◽  
pp. 1252-1253 ◽  
Author(s):  
D. Monies ◽  
J. Anabrees ◽  
N. Ibrahim ◽  
H. Elbardisy ◽  
M. Abouelhoda ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Ichthyosis

scholarly journals INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family

2018 ◽  
Vol 93 (3) ◽  
pp. 682-686 ◽  
Author(s):  
S. Yousaf ◽  
S.A. Sheikh ◽  
S. Riazuddin ◽  
A.M. Waryah ◽  
Z.M. Ahmed
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Pakistani Family

scholarly journals A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p

2010 ◽  
Vol 149 (5) ◽  
pp. 861-866 ◽  
Author(s):  
Shagufta Naz ◽  
S. Amer Riazuddin ◽  
Lin Li ◽  
Mariam Shahid ◽  
Samra Kousar ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Pakistani Family

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene

2001 ◽  
Vol 144 (4) ◽  
pp. 726-730 ◽  
Author(s):  
P.B. Cserhalmi-Friedman ◽  
L.M. Milstone ◽  
A.M. Christiano
Keyword(s):  
Autosomal Recessive ◽  
Lamellar Ichthyosis

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

1995 ◽  
Vol 9 (3) ◽  
pp. 279-283 ◽  
Author(s):  
Laura J. Russell ◽  
John J. DiGiovanna ◽  
Geraldine R. Rogers ◽  
Peter M. Steinert ◽  
Nemat Hashem ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Lamellar Ichthyosis ◽  
Transglutaminase 1

scholarly journals Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

2007 ◽  
Vol 80 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Lina Basel-Vanagaite ◽  
Revital Attia ◽  
Akemi Ishida-Yamamoto ◽  
Limor Rainshtein ◽  
Dan Ben Amitai ◽  
...  
Keyword(s):  
Serine Protease ◽  
Autosomal Recessive ◽  
Type Ii ◽  
Transmembrane Serine Protease ◽  
Recessive Ichthyosis
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