Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Asma Tajouri"'
Publikováno v:
Cardiology in the Young. 33:136-137
Inferior sinus venosus defect associated with left hepatic vein drainage to the coronary sinus is an extremely rare condition. We report the case of a 41-year-old man suffering from pulmonary arterial hypertension related to this unusual CHD. Plannin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f1db9fbff9af6e032087ee1df5b0125
https://doi.org/10.1017/s1047951122001354
https://doi.org/10.1017/s1047951122001354
Publikováno v:
The Journal of steroid biochemistry and molecular biology. 208
Androgens are critical for male sex differentiation. Their actions are mediated by the androgen receptor (AR). Mutations disrupting AR function result in the androgen insensitivity syndrome (AIS). In this study, we identified in a patient with comple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79868354e86be2fc10723a265aec8bdb
https://pubmed.ncbi.nlm.nih.gov/33548461
https://pubmed.ncbi.nlm.nih.gov/33548461
Autor:
Olaf Hiort, R. M’rad, Syrine Hizem, Frank J. Kaiser, Hajer Zaghdoudi, Asma Tajouri, Ralf Werner, Gunter Simic-Schleicher, Maher Kharrat
Publikováno v:
Human Mutation. 39:2097-2109
In humans, mutations of Desert Hedgehog gene (DHH) have been described in patients with 46,XY gonadal dysgenesis (GD), associated or not with polyneuropathy. In this study, we describe two patients diagnosed with GD, both harboring novel DHH compound
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fac5659fa985e452d2bc9e4cbba4e7c9
https://doi.org/10.1002/humu.23664
https://doi.org/10.1002/humu.23664
Autor:
Maher Kharrat, Asma Tajouri, Rabeb Touati, Afef Elloumi Oueslati, Zied Lachiri, Imen Mesaoudi
Publikováno v:
Biomedical Signal Processing and Control
Graphical abstract
Highlights • We converted X and Y chromosomes genomic sequences to numerical representation: DNA images. • We developed a new algorithm in the goal to localize the repetitive patterns in the DNA images corresponding to the
Highlights • We converted X and Y chromosomes genomic sequences to numerical representation: DNA images. • We developed a new algorithm in the goal to localize the repetitive patterns in the DNA images corresponding to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67495c04e4cec6ef02ffc65441cf445
https://pubmed.ncbi.nlm.nih.gov/33101452
https://pubmed.ncbi.nlm.nih.gov/33101452
Autor:
Francis Poulat, Salma Boujelben, Faouzi Maazoul, Ridha Mrad, Syrine Hizem, Asma Tajouri, Maher Kharrat, Dorsaf Ben Gaied
Publikováno v:
Sexual Development. 11:203-209
Complete gonadal dysgenesis (CGD) is characterized by an incomplete differentiation of the genital organs in a patient with a 46,XY karyotype. It is induced by mutations in the sex-determining region Y (SRY) gene which plays a key role in testis-dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::215b6b2d994ab6670cb19fd6048df66c
https://doi.org/10.1159/000478718
https://doi.org/10.1159/000478718
Autor:
Faouzi Maazoul, Imen Ben Nacef, Asma Tajouri, R. M’rad, Mediha Trabelsi, Maher Kharrat, H. Chaabouni, Cyrine Hizem
Publikováno v:
Steroids. 152
The Androgen insensitivity syndrome (AIS) in its complete form (CAIS) is a disorder in abnormal male development characterized by a complete female phenotype in a 46,XY individual. The most frequent cause of this disorder is a hemizygous mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bd29b3ace40a12f9eb7a6e9e15677f9
https://pubmed.ncbi.nlm.nih.gov/31499074
https://pubmed.ncbi.nlm.nih.gov/31499074
Autor:
Asma, Tajouri, Dorsaf, Ben Gaied, Syrine, Hizem, Salma, Boujelben, Faouzi, Maazoul, Ridha, M'rad, Francis, Poulat, Maher, Kharrat
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 11(4)
Complete gonadal dysgenesis (CGD) is characterized by an incomplete differentiation of the genital organs in a patient with a 46,XY karyotype. It is induced by mutations in the sex-determining region Y (SRY) gene which plays a key role in testis-dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41218b51c3900e307d1e2b7cfe468e23
https://pubmed.ncbi.nlm.nih.gov/28787711
https://pubmed.ncbi.nlm.nih.gov/28787711
Autor:
Maher Kharrat, Habiba Chaabouni, Faouzi Maazoul, Lamia Ben Jemaa, Asma Tajouri, Syrine Hizem, Maryem M’sahli, Ridha Mrad
Publikováno v:
Journal of Genetic Syndromes & Gene Therapy. 7
Mammalian sex is determined by a gene localized on the Y chromosome known as SRY (sex-determining region of the Y chromosome). SRY is a transcription factor that plays a key role in the initiation of the cascade of male sexual differentiation. In 46,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b61b7f317ce60277b5e3e2a8f66ea94c
https://doi.org/10.4172/2157-7412.1000300
https://doi.org/10.4172/2157-7412.1000300