Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Sex chromosomal abnormalities"'
Autor:
Anjali Shastry
Publikováno v:
National Board of Examinations Journal of Medical Sciences, Vol Volume 2, Iss Issue 11, Pp 1199-1206 (2024)
Male hypogonadism refers to decrease in testosterone levels due to diminished activity of testes. Hypogonadism will result in infertility, absent or poor secondary sexual characteristics and abnormal genitalia. One of the important causes of male hyp
Externí odkaz:
https://doaj.org/article/1bdd7eb1d9e642b1a448098223049c78
Autor:
Mercedes Valera, Ayelén Karlau, Gabriel Anaya, Monika Bugno-Poniewierska, Antonio Molina, Ana Encina, Pedro J. Azor, Sebastián Demyda-Peyrás
Publikováno v:
Animals, Vol 14, Iss 17, p 2560 (2024)
Sex chromosomal abnormalities are a well-established cause of reproductive failure in domestic horses. Because of its difficult diagnosis, the Pura Raza Español breeding program established a routine screening for chromosomal abnormalities in all th
Externí odkaz:
https://doaj.org/article/51e6ab778e8c4cd8bbbddc0571bc28bc
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Sex chromosomal abnormalities are associated with multiple defects. However, the types of sex chromosomal abnormalities during pregnancy in Fujian Province, China, are not recorded. In this retrospective analysis, we showed the sex chromosomal abnorm
Externí odkaz:
https://doaj.org/article/2f65b3aebcaf42f2bbd7fee7cd06a866
Akademický článek
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Autor:
Anisha Gohil, Erica A. Eugster
Publikováno v:
Endocrinol Metab Clin North Am
Delayed puberty may signify a common variation of normal development, or indicate the presence of a pathologic process. Constitutional delay of growth and puberty is a strongly familial type of developmental pattern and accounts for the vast majority
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca9218aa39eabb77c5993b45cf7214e8
https://doi.org/10.1016/j.ecl.2020.08.002
https://doi.org/10.1016/j.ecl.2020.08.002
Akademický článek
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Autor:
Hinh Duc Nguyen, Nhung Phuong Dinh, Huong Thi Thu Han, Lien Thi Ha, Hoa Thi Phuong Bui, Huong Thi Thanh Tran, Quy Van Hoang, Ha Thi Thanh Ly, Hung Van Nguyen, Tu Ngoc Nguyen, Huyen Thi Thanh Tran
Publikováno v:
Biomedical Journal of Scientific & Technical Research. 36
Down syndrome (DS) and Klinefelter syndrome (KS) are both serious congenital birth defects. DS is estimated to affect 1 in 700 births...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ff5c21ba15c31cd53cc2560f41df1e8
https://doi.org/10.26717/bjstr.2021.36.005837
https://doi.org/10.26717/bjstr.2021.36.005837
Autor:
Mona K. Mekkawy, Ken McElreavey, Anu Bashamboo, Mona El Gammal, Mona L. Essawi, Alaa K. Kamel, Mona O. El-Ruby, Khalda Amr, Heba A. Hassan, Hala Soliman, Mohamed S. Abdel-Hamid, Inas Mazen, Ahmed Torky, Aya Elaidy
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩
American Journal of Medical Genetics Part A, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩
American Journal of Medical Genetics Part A, Wiley, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩
American Journal of Medical Genetics Part A, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩
International audience; Disorders/differences of sex development (DSD) comprise a group of congenital disorders that affect the genitourinary tract and usually involve the endocrine and reproductive system. The aim of this work was to identify geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4515485b6df90f80b56e63145ad927b1
https://pubmed.ncbi.nlm.nih.gov/33742552
https://pubmed.ncbi.nlm.nih.gov/33742552
Publikováno v:
Prenatal diagnosisREFERENCES. 41(10)
Objective To examine the positive predictive value (PPV) of cfDNA screening for sex chromosome aneuploidies (SCA) in a large series of over 90 000 patients. Methods Retrospective study based on samples that were sent to Cenata, a private laboratory w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c91ca0c6f91421b671c70c0d95bd3ba
https://pubmed.ncbi.nlm.nih.gov/32804406
https://pubmed.ncbi.nlm.nih.gov/32804406
Autor:
Mustafa Doğan, Murat Kaya
Publikováno v:
Volume: 11, Issue: 4 631-633
Ortadoğu Tıp Dergisi
Ortadoğu Tıp Dergisi
Turner sendromu en sık görülen cinsiyet kromozom anomalilerinden biridir. Turner sendromunun, konsepsiyondaki sıklığı yüksektir ancak bu konsepsiyonların çok büyük bir kısmı intrauterin dönemde mortalite ile sonuçlanmaktadır. Alopesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0285ce013caf023116771ad75e74620d
https://doi.org/10.21601/ortadogutipdergisi.548552
https://doi.org/10.21601/ortadogutipdergisi.548552