Results 71 to 80 of about 14,603 (207)

Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease

Annals of Indian Academy of Neurology, 2012
Kennedy′s disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed.
Pedro Enrique Jiménez Caballero
doaj   +1 more source

Fragile X syndrome. [PDF]

, 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián, Forero-Forero, Jose Vicente, González-Teshima, Laura Yuriko, Hagerman, Randi, Saldarriaga, Wilmar, Tassone, Flora   +5 more
core   +1 more source

Errors in chromosome segregation during oogenesis and early embryogenesis [PDF]

, 2010
Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases.
A Dyban, A Kuliev, A Kuliev, A Mantzouratou, A Pujol, AL Barlow, C Gutierrez-Mateo, C Gutierrez-Mateo, C Staessen, C Tease, C Tease, C Tease, C Yuncken, CM Conn, CM Conn, D Wells, D Wells, E Bendsen, E Fragouli, E Fragouli, E Fragouli, E Fragouli, E Iwarsson, EY Cheng, F Pellestor, F Pellestor, G Sher, HE Hall, J Cohen, J Cozzi, JD Delhanty, JD Delhanty, JD Delhanty, JD Delhanty, KT Jones, L Gianaroli, L Gras, L Voullaire, L Voullaire, L Wilton, M Hultén, M Sandalinas, M Simopoulou, MA Hultén, ML Lenzi, NV Kovaleva, P Platteau, PA Almeida, PA Hunt, R Angell, R Mahmood, S Cupisti, S Evsikov, S Mastenbroek, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, T Anahory, T Hassold, TR Oliver, Y Verlinsky   +65 more
core   +1 more source

Sexing the X: How the X Became the “Female Chromosome” [PDF]

, 2014
This essay examines how the X became the “female chromosome” and how the association of the X with femaleness influences research questions, models, and descriptive language in human sex chromosome research.
Richardson, Sarah S
core   +2 more sources

Homicide and Klinefelter syndrome: a complex interaction

Brazilian Journal of Psychiatry, 2014
Introduction: Several studies have shown an association between homicide and sexual chromosomal abnormalities, but data are still lacking regarding Klinefelter syndrome.
Stéphane Richard-Devantoy, Fabrice Jollant, Anne-Isabelle Bouyer-Richard, Jean-Paul Lhuillier, Philip Gorwood   +4 more
doaj   +1 more source

Klinefelter's Syndrome in the Adult: Case Report and Review [PDF]

, 2011
Introdução: O diagnóstico de Síndrome de Klinefelter é habitualmente tardio (na idade adulta), devido à paucidade de sintomas e amplo espectro clínico e fenotípico, e é frequentemente feito na sequência do estudo de causas de infertilidade.
Barros, F, Forte, JP, Gameiro, C
core  

Assessing osteoporosis in the young adult [PDF]

, 2015
Osteoporosis in the young adult is a relatively rare phenomenon, and its diagnosis needs careful assessment of the affected person. The emphasis in the assessment of bone health is gradually shifting from a simple quantitative assessment of bone mineral ...
Ahmed, Syed Faisal, Choong, Wong Sze, Gallacher, Stephen   +2 more
core   +1 more source

Skin involvement as the presenting sign of a male breast cancer [PDF]

, 2020
Male breast cancer is a rare disease with an unknown etiopathogenesis.
Alouani, Imane, Bouziane, Mohammed, Dikhaye, Siham, Zerrouki, Nassiba, Zizi, Nada   +4 more
core  

Finding the GEMSS in Schools. [PDF]

, 2014
Are you the parent of a child who has a genetic condition such as Down syndrome, Fragile X, or Marfan syndrome? Have you searched for a base of knowledge that is comprehensive and reliable?
Dillon, Ann
core   +1 more source

TAURODONTISM AND KLINEFELTER SYNDROME: CASE REPORT AND REVIEW OF THE LITERATURE

Cumhuriyet Dental Journal, 2014
This paper presents aseven-year old patient with Klinefelter Syndrome who needs dental treatmentbecause of pain in his teeth. The patient had mildmental retardation, learning and speaking difficulties, taurodonticteeth, missing premolars and incisor ...
Fatih Öznurhan
doaj   +1 more source