Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidenceof a founder effect

2018 ◽  
Author(s):  
Dorra Ghorbel ◽  
Faten Hadjkacem ◽  
Fatma Mnif ◽  
Fatma Loukil ◽  
Mouna Mnif ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Thyroid Dyshormonogenesis

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect

2015 ◽  
Vol 174 (11) ◽  
pp. 1491-1501
Author(s):  
Noura Bougacha-Elleuch ◽  
Nadia Charfi ◽  
Nabil Miled ◽  
Houda Bouhajja ◽  
Neila Belguith ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Thyroid Dyshormonogenesis

scholarly journals Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect

2015 ◽  
Vol 174 (12) ◽  
pp. 1703-1703
Author(s):  
Noura Bougacha-Elleuch ◽  
Nadia Charfi ◽  
Nabil Miled ◽  
Houda Bouhajja ◽  
Neila Belguith ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Thyroid Dyshormonogenesis

scholarly journals Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

1998 ◽  
Vol 6 (6) ◽  
pp. 589-596 ◽  
Author(s):  
Maritta Pigg ◽  
Tobias Gedde-Dahl Jr ◽  
Diane Cox ◽  
Ingrid Haußer ◽  
Ingrun Anton-Lamprecht ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Lamellar Ichthyosis ◽  
Strong Founder Effect ◽  
Transglutaminase 1 ◽  
Congenital Ichthyosiform Erythroderma

Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

2007 ◽  
Vol 0 (0) ◽  
pp. 071003002526001-??? ◽  
Author(s):  
W. Heinritz ◽  
U. Paasch ◽  
M. Sticherling ◽  
C. Wittekind ◽  
J.C. Simon ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Renal Cell Cancer ◽  
Founder Effect ◽  
Renal Cell ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Hereditary Leiomyomatosis

A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect

2014 ◽  
Vol 27 (3-4) ◽  
Author(s):  
Veysel Nijat Baş ◽  
Zehra Aycan ◽  
Hakan Cangul ◽  
Michaela Kendall ◽  
Sebahat Yılmaz Ağladıoğlu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Hypothyroidism ◽  
Founder Effect ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene ◽  
Turkish Patients

scholarly journals Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

2014 ◽  
Vol 1 ◽  
pp. 414-421 ◽  
Author(s):  
Dayse Oliveira de Alencar ◽  
Cristina Netto ◽  
Patricia Ashton-Prolla ◽  
Roberto Giugliani ◽  
Ândrea Ribeiro-dos-Santos ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Gene Mutation ◽  
Founder Effect ◽  
Gla Gene

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Casr Gene
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