Search Results - "Geckinli, B B"

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly by Link, Nichole, Chung, Hyunglok, Jolly, Angad, Withers, Marjorie, Tepe, Burak, Arenkiel, Benjamin R., Shah, Priya S., Krogan, Nevan J., Aydin, Hatip, Geckinli, Bilgen B., Tos, Tulay, Isikay, Sedat, Tuysuz, Beyhan, Mochida, Ganesh H., Thomas, Ajay X., Clark, Robin D., Mirzaa, Ghayda M., Lupski, James R., Bellen, Hugo J.

“…The apical Par complex, which contains atypical protein kinase C (aPKC), Bazooka (Par-3), and Par-6, is required for establishing polarity during asymmetric…”
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes by Yuan, Bo, Pehlivan, Davut, Karaca, Ender, Patel, Nisha, Charng, Wu-Lin, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Sutton, V Reid, Yesil, Gozde, Bozdogan, Sevcan Tug, Tos, Tulay, Koparir, Asuman, Koparir, Erkan, Beck, Christine R, Gu, Shen, Aslan, Huseyin, Yuregir, Ozge Ozalp, Al Rubeaan, Khalid, Alnaqeb, Dhekra, Alshammari, Muneera J, Bayram, Yavuz, Atik, Mehmed M, Aydin, Hatip, Geckinli, B Bilge, Seven, Mehmet, Ulucan, Hakan, Fenercioglu, Elif, Ozen, Mustafa, Jhangiani, Shalini, Muzny, Donna M, Boerwinkle, Eric, Tuysuz, Beyhan, Alkuraya, Fowzan S, Gibbs, Richard A, Lupski, James R

“…Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism,…”
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Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia by Pehlivan, Davut, Karaca, Ender, Aydin, Hatip, Beck, Christine R, Gambin, Tomasz, Muzny, Donna M, Bilge Geckinli, B, Karaman, Ali, Jhangiani, Shalini N, Gibbs, Richard A, Lupski, James R

“…Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and…”
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Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability by Türkyılmaz, A, Geckinli, BB, Tekin, E, Ates, EA, Yarali, O, Cebi, AH, Arman, A

“…Developmental delay (DD) is a condition wherein developmental milestones and learning skills do not occur at the expected age range for patients under 5 years…”
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Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency by Geckinli, B B, Toksoy, G, Sayar, C, Soylemez, M A, Yesil, G, Aydın, H, Karaman, A, Devranoglu, B

“…Abstract Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian…”
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A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH by Geckinli, B B, Aydin, H, Karaman, A

“…We report a patient with neurodevelopmental delay, hypotonia, congenital cardiac anomaly and dysmorphic features such as macrocephaly, a large anterior…”
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CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33 by Geckinli, B B, Aydin, H, Karaman, A, Delil, K, Simsek, H, Gokmeydan, E, Turkdogan, D

“…We report a patient with a rare de novo duplication of 12q23.1-12q24.33 region with a 32.7 Mb gain, having similar features seen in previously reported…”
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CO-OCCURRENCE OF NEURAL TUBE DEFECT, THORACAL DEFECT AND OMPHALOCELE: A RARE CASE AND REVIEW OF THE LITERATURE by Aydin, By H, Arisoy, R, Simsek, H, Erdogdu, E, Geckinli, B, Karaman, A, Demirci, O

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Craniorachischisis, gastroschisis, and a branchial sinus defect: a case report by Aydin, H, Yanik, S, Tug, E, Ahsen, H, Geckinli, B, Senol, S, Karaman, A, Yilmaz, F, Boran, C

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Tetrasomy 12p presenting with long appendix: a prenatal case by Aydin, H, Arisoy, R, Geckinli, B, Erdogdu, E, Karaman, A, Gokmeydan, E, Pekin, O, Tugrul, S, Yorganci, C

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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease by Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Coban Akdemir, Zeynep, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Tug Bozdogan, Sevcan, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Yilmaz Gulec, Elif, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R.

“…Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which…”
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The deletion 22q13 syndrome: a new case by Karaman, A, Aydin, H, Geçkinli, B, Göksu, K

“…The deletion 22q13.3 syndrome (Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental…”
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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly by Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., Antonarakis, Stylianos E.

“…Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2 interacting protein 1 (TTI1) are the three components of the conserved Triple T…”
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome by Dyment, David A., O'Donnell‐Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping‐Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, Boer, Elke, Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, López‐Giráldez, Francesc, Matise, Tara C., McEvoy‐Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

“…Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There…”
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A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations by Seven, M, Suyugül, Z, Yüksel, A, Geçkinli, B, Hacihanefioğlu, S, Cenani, A

“…In this report we present three affected females of the same family in three generations. The cases have features of focal dermal hypoplasia (Goltz syndrome)…”
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Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects by Aydin, Hatip, Arisoy, Resul, Karaman, Ali, Erdoğdu, Emre, Çetinkaya, Arda, B Geçkinli, Bilge, Şimşek, Hasan, Demirci, Oya

“…Neural tube defects (NTDs) are common congenital malformations that develop as a result of interactions between several genes and environmental factors. Many…”
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