Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith- Kingsmore Syndrome and Rubinstein Taybi Syndrome Type2

Autor: Yesim Ozdemir, Murat Cag, Munis Dundar, Aslihan Kiraz, Cihan Meral

Publikováno v: International Journal of Innovative Research in Medical Science. 7:100-106

Smith-Kingsmore Syndrome is a very rare autosomal dominant intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features. The prevalence of SKS, with 27 patients reported so far, is still u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6288c47840e5ca707a88aac69071edaf
https://doi.org/10.23958/ijirms/vol07-i02/1355

Frequency of Developmental Hip Dysplasia in a Training Hospital

Autor: Emrah Can, İlhan Asya Tanju, Cihan Meral

Publikováno v: Haseki Tıp Bülteni, Vol 48, Iss 9, Pp 99-102 (2010)

Aim: We aimed to determine the frequency of cases with developmental hip dysplasia during the neonatal period and the associated risk factors. Methods: Hip ultrasound images of 258 full-term newborns aged one month were evaluated prospectively in

Externí odkaz: https://doaj.org/article/890a33de66ff4944a20f98c1d0571a19

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia

Autor: Murat Gunel, Cihan Meral, Fatih Toy, Yanki Yarman, A. Gulhan Ercan-Sencicek, Nukte Goc, Hande Kaymakçalan

Publikováno v: American journal of medical genetics. Part A. 176(2)

We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64770653ff2dc616c6a55734652bc2a8
https://pubmed.ncbi.nlm.nih.gov/29226631

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Autor: Rik Hendrickx, Tiina Talvik, Anna-Elina Lehesjoki, Laura Ortega, Federico Zara, Tarja Linnankivi, Uluç Yiş, Barca Diana, Inga Talvik, José M. Serratosa, Johannes R. Lemke, Yvonne G. Weber, Ulrich Stephani, Petia Dimova, Andrey Kirov, Eric LeGuern, Renzo Guerrini, Cihan Meral, Holger Lerche, Peter de Witte, Sarah Weckhuysen, Christel Depienne, Helle Hjalgrim, Nina Barišić, Beatriz G. Giráldez, Katalin Sterbova, Angela Robbiano, Mutluay Arslan, Vanja Ivanović, Alexander D. Crawford, Camila V. Esguerra, Stéphanie Baulac, Pasquale Striano, Kaja Kristine Selmer, Rosa Guerrero-López, Philip Holmgren, Gerhard Kluger, Angela Kecskés, Silke Appenzeller, Vladimir Komarek, Aleksandra Siekierska, Carla Marini, Bobby P. C. Koeleman, Padhraig Gormley, Budisteanu Magdalena, Manuela Pendiziwiat, Peter De Jonghe, Eva H. Brilstra, Albena Todorova, Johanna A. Jaehn, Oana Tarta Arsene, Tatiana Afrikanova, Arvid Suls, Rikke S. Møller, Dorota Hoffman-Zacharska, Aarno Palotie, Tania Djémié, Dana Craiu, Hande Caglayan, Elżbieta Szczepanik, Gherghiceanu Rodica, Sarah von Spiczak, Felix Rosenow, Ingo Helbig, Hiltrud Muhle, Gregor Kuhlenbäumer, Catrinel Iliescu

Publikováno v: Suls, A, Jaehn, J A, Kecskés, A, Weber, Y, Weckhuysen, S, Craiu, D C, Siekierska, A, Djémié, T, Afrikanova, T, Gormley, P, von Spiczak, S, Kluger, G, Iliescu, C M, Talvik, T, Talvik, I, Meral, C, Caglayan, H S, Giraldez, B G, Serratosa, J, Lemke, J R, Hoffman-Zacharska, D, Szczepanik, E, Barisic, N, Komarek, V, Hjalgrim, H, Møller, R S, Linnankivi, T, Dimova, P, Striano, P, Zara, F, Marini, C, Guerrini, R, Depienne, C, Baulac, S, Kuhlenbäumer, G, Crawford, A D, Lehesjoki, A-E, de Witte, P A M, Palotie, A, Lerche, H, Esguerra, C V, De Jonghe, P, Helbig, I & EuroEPINOMICS RES Consortium 2013, ' De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome ', American Journal of Human Genetics, vol. 93, no. 5, pp. 967-975 . https://doi.org/10.1016/j.ajhg.2013.09.017
The American journal of human genetics
American Journal of Human Genetics, 93(5), 967-975. (2013).
ResearcherID
The American Journal of Human Genetics; Vol 93

Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0e22ad1eaf15b4fd1ad1275cf9dca5
https://doi.org/10.1016/j.ajhg.2013.09.017

Assessment of Sleeping Positions of İnfants in Pediatric Outpatient Clinic

Autor: Yalçın Çelik, Sevim Purisa, Bulent Ozturk, Cihan Meral

Publikováno v: Tuberculin Skin Test in Children. 10:179-182

Objective: In many countries campaigns were launched in favour of supine positioning of the infants to decrease the prevelance of the sudden infant death syndrome. There are few data about the sleeping positions of the babies in our country. We aimed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d14e85fff4c63b7a73a605a2fd17d861
https://doi.org/10.5222/j.child.2010.179