A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia

2020 ◽  
Vol 41 (5) ◽  
pp. 474-479
Author(s):  
Gonçalo Godinho ◽  
Carolina Madeira ◽  
Ana Grangeia ◽  
Pedro Neves-Cardoso ◽  
Renato Santos-Silva ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Variant ◽  
Foveal Hypoplasia ◽  
Posterior Microphthalmos

scholarly journals The human retinitis pigmentosa GTPase regulator gene variant database

2008 ◽  
Vol 29 (5) ◽  
pp. 605-608 ◽  
Author(s):  
Xinhua Shu ◽  
Ewan McDowall ◽  
Alastair F. Brown ◽  
Alan F. Wright
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Variant ◽  
Regulator Gene ◽  
Retinitis Pigmentosa Gtpase Regulator ◽  
Variant Database

Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study

2019 ◽  
Vol 40 (3) ◽  
pp. 288-292 ◽  
Author(s):  
María José Morillo Sánchez ◽  
Pilar Llavero Valero ◽  
María González-Del Pozo ◽  
Beatriz Ponte Zuñiga ◽  
Guillermo Antiñolo ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Familial Study ◽  
Posterior Microphthalmos

I1307K APC gene variant has no clinical implication in Israeli jews at average or high risk for colorectal neoplasia

2001 ◽  
Vol 120 (5) ◽  
pp. A120-A121
Author(s):  
H STRUL ◽  
E BIRENBAUM ◽  
B STERN ◽  
D KAZANOV ◽  
L THEODOR ◽  
...  
Keyword(s):  
High Risk ◽  
Clinical Implication ◽  
Colorectal Neoplasia ◽  
Apc Gene ◽  
Gene Variant

A Dermatoglyphics Study of Retinitis Pigmentosa– A Case Study

2012 ◽  
Vol 3 (5) ◽  
pp. 5-6
Author(s):  
Dr. Chandan Kumar Sinha ◽  
◽  
Amminabhavi Nazia Banu Nurahmad ◽  
Yogita Mallu Kattimani
Keyword(s):  
Retinitis Pigmentosa

Lower Hepatic Insulin Sensitivity in a Family with a Recently Described Glucokinase Gene Variant

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 1509-P ◽  
Author(s):  
KÁLMÁN BÓDIS ◽  
OANA P. ZAHARIA ◽  
YANISLAVA KARUSHEVA ◽  
PAVEL BOBROV ◽  
DANIEL F. MARKGRAF ◽  
...  
Keyword(s):  
Insulin Sensitivity ◽  
Gene Variant ◽  
Glucokinase Gene ◽  
Hepatic Insulin Sensitivity

70-LB: Fat Mass and Obesity-Associated rs9939609 Gene Variant Is Related to Fasting Glucose in Children with Mental Health Conditions

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 70-LB
Author(s):  
ALEJANDRA M. WIEDEMAN ◽  
YING FAI NGAI ◽  
AMANDA M. HENDERSON ◽  
CONSTADINA PANAGIOTOPOULOS ◽  
ANGELA M. DEVLIN
Keyword(s):  
Mental Health ◽  
Fat Mass ◽  
Fasting Glucose ◽  
Health Conditions ◽  
Gene Variant ◽  
Mental Health Conditions
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