Výsledky vyhledávání - "A. Kalpini‐Mavrou"

Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients

Autor: Sophia Polychronopoulou, Ariadni Kalpini-Mavrou, Loizos Petrikkos, Konstantinos Tsitsikas, Charikleia Kelaidi, Vasiliki Tzotzola, Helen Fryssira, Nikoletta Selenti, Alexandros Makis, Vassiliki Kitra, Eleni-Dikaia Ioannidou, Kondilia Antoniadi

Publikováno v: Journal of Pediatric Hematology/Oncology. 41:612-617

Prognostic refinement in Fanconi anemia (FA) is needed, especially when considering allogeneic hematopoietic stem cell transplantation (HCT). We studied 20 children with FA and bone marrow failure from a single center. According to Hôpital Saint-Lou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c18ab3bf053e9eefab3c7e139c98ee9
https://doi.org/10.1097/mph.0000000000001549

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Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients

Autor: Kelaidi, C. Makis, A. Petrikkos, L. Antoniadi, K. Selenti, N. Tzotzola, V. Ioannidou, E.-D. Tsitsikas, K. Kitra, V. Kalpini-Mavrou, A. Fryssira, H. Polychronopoulou, S.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::2147a25e466eb9a081d0825232154c07
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3121857

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Androgen insensitivity syndrome: clinical features and molecular defects

Autor: Ariadni Kalpini-Mavrou, Christalena Sofokleous, Emmanuel Kanavakis, Sophia Kitsiou-Tzeli, Angeliki Galani

Publikováno v: HORMONES. 7:217-229

The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS), an X-linked disorder caused by mutations in the androgen receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24d1d82e0570c77f12802b85256ecf42
https://doi.org/10.14310/horm.2002.1201

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Androgen insensitivity syndrome: Clinical features and molecular defects

Autor: Galani, A. Kitsiou-Tzeli, S. Sofokleous, C. Kanavakis, E. Kalpini-Mavrou, A.

The end-organ resistance to androgens has been designated as Androgen Insensitivity Syndrome (AIS), an X-linked disorder caused by mutations in the Androgen Receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::877d8d6c4319a66e4d0eea8f41750035
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3112932

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Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene

Autor: Galani, Angeliki Sofocleous, Christalena Karahaliou, Feneli and Papathanasiou, Asteroula Kitsiou-Tzeli, Sofia Kalpini-Mavrou, Ariadni

Objective: To establish the diagnosis of complete androgen insensitivity syndrome (CAIS) in two patients with characteristic clinical and hormonal findings, relative family history in one of them, and unusual Mullerian remnants in the other. Design:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::8f380f1069ec1c8774382858f36752a9
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3140303

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Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene

Autor: Feneli Karahaliou, Christalena Sofocleous, Asteroula Papathanasiou, Angeliki Galani, Ariadni Kalpini-Mavrou, Sofia Kitsiou-Tzeli

Publikováno v: Fertility and sterility. 90(5)

Objective To establish the diagnosis of complete androgen insensitivity syndrome (CAIS) in two patients with characteristic clinical and hormonal findings, relative family history in one of them, and unusual Mullerian remnants in the other. Design Ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::949f46926dfdde3c457b4c0c255df9d2
https://pubmed.ncbi.nlm.nih.gov/18342859

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Short stature and dysmorphology associated with defects in the SHOX gene

Autor: Emmanuel Kanavakis, Sofia Leka, Ariadni Kalpini-Mavrou, Sofia Kitsiou-Tzeli

Publikováno v: Hormones (Athens, Greece). 5(2)

Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a09672f393ec3da04b8907db8a66ce6a
https://pubmed.ncbi.nlm.nih.gov/16807223

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Familial medulloblastoma

Autor: Moschovi, M Sotiris, Y Prodromou, N Tsangaris, GT and Van-Vliet, CC Kalpini-Mavrou, A Tzortzatou-Stathopoulou, F

Medulloblastomas account for 20 % of all primary brain tumors. The vast majority of them are sporadic. Familial medulloblastoma is very rare-only a few cases have Deem reported worldwide. Most were observed in siblings of the same sex. The affected c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::f21bd81f9d151c60a60e6766bddf4e34
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3050840

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