Results 31 to 40 of about 282,756 (243)

Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]

, 2013
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed, Ahmed, Ahmed, Ahmed, Akre, Antonio Balsamo, Bangsbøll, Bebermeier, Berger, De Groote, Dolk, Duguid, Feyza Darendeliler, Flück, Gottlieb, Guerrier, Hiort, Hughes, Hughes, Hughes, Ieuan Hughes, Jillian Bryce, Jipu Jiang, Kathryn Cox, Kreidberg, Köhler, Laura Audi, Lidka Lisa, Martina Rodie, Martine Cools, Melià, Miles, Mona Alkhawari, Mona Ellaithi, Morcel, Nabhan, Nils Krone, Nowaczyk, Olaf Hiort, Olle Soder, Ono, Pang, Paul-Martin Holterhus, Peter Wieacker, Porter, Richard Sinnott, S. Faisal Ahmed, Silvano Bertelloni, Stenvert Drop, Sun, Telvi, Thyen, Tokgoz, Tosson, Tulay Guran, Wiebke Arlt, Yang, Yinon, Yves Morel   +58 more
core   +8 more sources

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

Human Genomics, 2023
Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33 to 25.9%.
Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan, Brian H. Y. Chung   +8 more
doaj   +1 more source

Clinical and hormonal characteristics and growth data of 45,X/46,XY mosaicism in 38 Chinese patients

Frontiers in Pediatrics, 2023
Backgrounds45,X/46,XY mosaicism is the most common type of sex chromosomal abnormality in disorders of sex development (DSD). We investigated the clinical manifestations, serum sex hormone levels and growth data of 38 45,X/46,XY mosaicism patients, which
Jiaoru Yang, Yan Li, Pin Li
doaj   +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

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

O uso da hibridação in situ com fluorescência no diagnóstico de mosaicismo oculto: a propósito de três casos de anomalias de cromossomos sexuais [PDF]

, 2012
FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old
Andrade, Juliana Gabriel Ribeiro, De Paulo, Juliana, Guaragna-Filho, Guilherme, Guerra-Junior, Gil, Maciel-Guerra, Andréa Trevas, Santos, Ana Paula, Siviero-Miachon, Adriana Aparecida, Spinola-Castro, Angela Maria   +7 more
core   +3 more sources

On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A., Patel, Suketu D., Tankimanova, Maira, Westgren, Magnus, Papadogiannakis, Nikos, Jonsson, Anna Maria, Iwarsson, Erik   +6 more
core   +1 more source

Fetal tuberous sclerosis and diagnosis of paternal gonadal mosaicism

Ultrasound in Obstetrics and Gynecology, 2020
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with high clinical variability. TSC is caused by pathogenic variants within the TSC1 or TSC2 gene, which regulate cell growth and proliferation, and affected individuals develop benign ...
B. Tutschek, K. Mayer, A. Rauch
semanticscholar   +1 more source

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
core   +1 more source

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin [PDF]

, 2010
Background: Dravet syndrome is a severe infantile epileptic encephalopathy caused in approximately 80% of cases by mutations in the voltage gated sodium channel subunit gene SCN1A. The majority of these mutations are de novo.
Berkovic, S., Birch, R., Bruce, C., Heron, S., Iona, X., McMahon, J., Mulley, J., Scheffer, I., Zuberi, S.   +8 more
core   +1 more source