scholarly journals Very late onset X-linked recessive bulbospinal neuronopathy: mild clinical features and a mild increase in the size of tandem CAG repeat in androgen receptor gene.

1993 ◽  
Vol 56 (7) ◽  
pp. 832-833 ◽  
Author(s):  
M Doyu ◽  
G Sobue ◽  
T Mitsuma ◽  
M Uchida ◽  
T Iwase ◽  
...  
1999 ◽  
Vol 162 (1) ◽  
pp. 269-270
Author(s):  
E. Giovannucci ◽  
E.A. Platz ◽  
M.J. Stampfer ◽  
A. Chan ◽  
K. Krithivas ◽  
...  

2005 ◽  
Vol 12 (2) ◽  
pp. 135-141 ◽  
Author(s):  
Ilma Simoni Brum ◽  
Poli Mara Spritzer ◽  
Franyoise Paris ◽  
Maria Augusta Maturana ◽  
Franyoise Audran ◽  
...  

2009 ◽  
Vol 113 (3-5) ◽  
pp. 202-208 ◽  
Author(s):  
Germán Rodríguez-González ◽  
Raquel Ramírez-Moreno ◽  
Patricia Pérez ◽  
Cristina Bilbao ◽  
Laura López-Ríos ◽  
...  

2015 ◽  
Vol 156 (33) ◽  
pp. 1348-1352
Author(s):  
Stelios Mavrogenis ◽  
Endre Czeizel

The healthy couple had five sons with hypospadias (glandular 1, coronal 4) without other child. Similar familial cluster has not reported in the sons of European parents without consanguinity. Mild form androgen insensitivity syndrome was expected in these 5 boys because of the X-linked androgen receptor gene, however, sequencing of the entire coding region (exons 1-8) and all intron-exon boundaries of the androgen receptor gene did not reveal abnormality and the CAG repeat was found in the normal range (21 repeats). This extreme familial cluster may help us to elucidate gene polymorphisms in the polygenic background of the multifactorial origin of isolated hypospadias. Therefore, the authors collaborate with a genetic institute in Pittsburg, USA to perform whole genome sequencing in these probands and their parents. Orv. Hetil., 2015, 156(33), 1348–1352.


2003 ◽  
Vol 88 (7) ◽  
pp. 3333-3338 ◽  
Author(s):  
Lourdes Ibáñez ◽  
Ken K. Ong ◽  
Nigel Mongan ◽  
Jarmo Jääskeläinen ◽  
Maria Victoria Marcos ◽  
...  

The Lancet ◽  
2002 ◽  
Vol 359 (9300) ◽  
pp. 44-46 ◽  
Author(s):  
Ewa Rajpert-De Meyts ◽  
Henrik Leffers ◽  
Jørgen H Petersen ◽  
Anne-Grethe Andersen ◽  
Elisabeth Carlsen ◽  
...  

2009 ◽  
Vol 24 (12) ◽  
pp. 3230-3235 ◽  
Author(s):  
S. Chatterjee ◽  
R. Singh ◽  
S. Kadam ◽  
A. Maitra ◽  
K. Thangaraj ◽  
...  

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