A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation

Authors: B Bilge Türköver, Ceyhan Sayar, Güven Toksoy, Nursel Elçioğlu

Source: The Turkish Journal of Pediatrics, Vol 51, Iss 2 (2009)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://turkjpediatr.org/article/view/2282; https://doaj.org/toc/0041-4301; https://doaj.org/toc/2791-6421

Access URL: https://doaj.org/article/22074cf3412a48258e336571c37f7eed

Adult height in Turkish patients with Turner syndrome without growth hormone treatment

Authors: Abdullah Bereket, Sule Can, Ebru Ozerkan, Mahmut Coker, Sükran Darcan, Behzat Ozkan, Zerrin Orbak, Sitki Oztaş, Sükrü Palandüz, Ilhan Sezgin, Emre Atabek, Ibrahim Erkul, Metin Yildiz, Pinar Işgüven, Serap Turan, Nursel Elçioğlu, Seniha Hacihanefioğlu, Nihal Memioğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler, Hülya Günöz, Nurçin Saka, Oya Ercan, Ilknur Arslanoğlu, Gürbüz Erdoğan

Source: The Turkish Journal of Pediatrics, Vol 50, Iss 5 (2008)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://turkjpediatr.org/article/view/2460; https://doaj.org/toc/0041-4301; https://doaj.org/toc/2791-6421

Access URL: https://doaj.org/article/b508ec0b120f46aba4e6201ce227a114

Short rib-polydactyly syndrome: a case report

Authors: Münevver Türkmen, Kübra Temoçin, Cağlar Acar, Edi Levi, Can Karaman, Gülten Inan, Nursel Elçioğlu

Source: The Turkish Journal of Pediatrics, Vol 45, Iss 4 (2003)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://turkjpediatr.org/article/view/2925; https://doaj.org/toc/0041-4301; https://doaj.org/toc/2791-6421

Access URL: https://doaj.org/article/60003de82d0e4e94a1a1aa45f6a6d457

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Authors: Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski

Source: HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)

Subject Terms: allelic series, Alu/Alu-mediated rearrangement, birth defect, clinical genomics, congenital limb malformation, developmental genomics, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000483; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/335675b4b479443ca3e74cb451032f99

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Authors: Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick

Source: PLoS Genetics, Vol 14, Iss 12, p e1007866 (2018)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/5eacb5aa2aef4ceabdeb674476983ece

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Authors: Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick

Source: PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3131273?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/14f960f7e2974b98bdeb21467c0aa11c

Tracheobronchial calcification associated with Keutel syndrome

Authors: Nihal Ozdemir, Refika Ersu, Figen Akalin, Bülent Karadag, Arif Kut, Fazilet Karakoç, Nursel Elçioglu, Elif Dagli

Source: The Turkish Journal of Pediatrics, Vol 48, Iss 4 (2006)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://turkjpediatr.org/article/view/2660; https://doaj.org/toc/0041-4301; https://doaj.org/toc/2791-6421

Access URL: https://doaj.org/article/2acf6806e27f4198bc20ddc9f99a3f27