Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Semerci CN"'
Autor:
Dinçer T, Yorgancıoğlu-Budak G, Ölmez A, Er İ, Dodurga Y, Özdemir ÖM, Toraman B, Yıldırım A, Sabir N, Akarsu NA, Semerci CN, Kalay E
Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3566::b011224b180a5134be50ae4c6cdea8fb
Autor:
Dincer, T, Yorgancioglu-Budak, G, Olmez, A, Er, I, Dodurga, Y, Ozdemir, OMA, Toraman, B, Yildirim, A, Sabir, N, Akarsu, NA, Semerci, CN, Kalay, E
Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9efeab2a3cf1afb86f4af45083c76ce5
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/23672
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/23672
Autor:
Semerci CN, Kalay E, Yıldırım C, Dinçer T, Olmez A, Toraman B, Koçyiğit A, Bulgu Y, Okur V, Satıroğlu-Tufan L, Akarsu NA
AIM: This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. METHODS: In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3566::18e7fff6a6d20db78509de96c1ef199a
Autor:
Semerci, CN, Kalay, E, Yildirim, C, Dincer, T, Olmez, A, Toraman, B, Kocyigit, A, Bulgu, Y, Okur, V, Satiroglu-Tufan, L, Akarsu, NA
Aim This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. Methods In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleotid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1aff6441feb6fbb06c94b510208327d8
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/14517
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/14517
Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::13824320c9cb545827abd5a7e2c0bb37
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/21944
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/21944
Publikováno v:
Clinical Dysmorphology. 10:57-60
We present a 30 week old male fetus who had a very interesting malformation complex which can not be explained by teratogenic or hereditary diseases. The aim of this paper is to discuss this complicated entity and compare it with other reported cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a376b1332e7767c6150fdf3409172c
https://doi.org/10.1097/00019605-200101000-00012
https://doi.org/10.1097/00019605-200101000-00012
Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive disorder associated with germline mutations of the arginine vasopressin (AVP) receptor type 2 (AVPR2) gene. The researchers describe a novel mutation in the AVPR2 gene in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::06717da28a5b99931ed7325d81bf5a74
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/14217
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/14217
Autor:
Morimoto, M, Yu, ZX, Stenzel, P, Clewing, JM, Najafian, B, Mayfield, C, Hendson, G, Weinkauf, JG, Gormley, AK, Parham, DM, Ponniah, U, Andre, JL, Asakura, Y, Basiratnia, M, Bogdanovic, R, Bokenkamp, A, Bonneau, D, Buck, A, Charrow, J, Cochat, P, Cordeiro, I, Deschenes, G, Fenkci, MS, Frange, P, Frund, S, Fryssira, H, Guillen-Navarro, E, Keller, K, Kirmani, S, Kobelka, C, Lamfers, P, Levtchenko, E, Lewis, DB, Massella, L, McLeod, DR, Milford, DV, Nobili, F, Saraiva, JM, Semerci, CN, Shoemaker, L, Stajic, N, Stein, A, Taha, D, Wand, D, Zonana, J, Lucke, T, Boerkoel, CF
Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2702258ce3ba6587e983173a38b00185
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/13721
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/13721
A 30-year-old male patient referred to our clinic for unraveling the underlying etiology of the azoospermia. He had no unusual medical history. At physical examination, obesity, short neck and gynecomastia were noted. All hormone levels were normal e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0113b5545415154729bc3f5ac4debffc
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/13637
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/13637