Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

Authors: Batkovskyte, Dominyka, McKenzie, Fiona, Taylan, Fulya, Simsek‐Kiper, Pelin Ozlem, Nikkel, Sarah M, Ohashi, Hirofumi, Stevenson, Roger E, Ha, Thuong, Cavalcanti, Denise P, Miyahara, Hiroyuki, Skinner, Steven A, Aguirre, Miguel A, Akçören, Zühal, Utine, Gulen Eda, Chiu, Tillie, Shimizu, Kenji, Hammarsjö, Anna, Boduroglu, Koray, Moore, Hannah W, Louie, Raymond J, Arts, Peer, Merrihew, Allie N, Babic, Milena, Jackson, Matilda R, Papadogiannakis, Nikos, Lindstrand, Anna, Nordgren, Ann, Barnett, Christopher P, Scott, Hamish S, Chagin, Andrei S, Nishimura, Gen, Grigelioniene, Giedre

Source: Journal of bone and mineral research. 38(5):692-706

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Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Authors: Güleray Lafcı, Naz, Karaosmanoglu, Beren, Taskiran, Ekim Z., Simsek-Kiper, Pelin Ozlem, Utine, Gülen Eda

Source: Molecular syndromology. 14(3):258-266

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HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Authors: O'Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L.J., MacInnes, Alyson W.

Source: Blood. 139(21):3111-3126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183252825.0x000001&indx=1&recIds=ETOCvdc_100183252825.0x000001

Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome

Authors: Kahraman, Ayca Burcu, Karakaya, Bekir, Yıldız, Yılmaz, Kamaci, Saygin, Kesici, Selman, Simsek-Kiper, Pelin Ozlem, Kurt-Sukur, Eda Didem, Bayrakcı, Benan, Haliloglu, Goknur

Source: NEUROMUSCULAR DISORDERS. 32(11-12):931-934

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100177779704.0x000001&indx=1&recIds=ETOCvdc_100177779704.0x000001

Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3

Authors: Simsek‐Kiper, Pelin Ozlem, Jacob, Prince, Upadhyai, Priyanka, Taşkıran, Zihni Ekim, Guleria, Vishal S., Karaosmanoglu, Beren, Imren, Gozde, Gocmen, Rahsan, Bhavani, Gandham S., Kausthubham, Neethukrishna, Shah, Hitesh, Utine, Gulen Eda, Boduroglu, Koray, Girisha, Katta M.

Source: Human mutation. 43(12):2116-2129

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168379564.0x000001&indx=1&recIds=ETOCvdc_100168379564.0x000001

Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience

Authors: Kahraman, Ayca Burcu, Simsek‐Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray

Source: American journal of medical genetics.Part A. 188(8):2367-2375

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Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia.

Authors: Imren, Gozde, Karaosmanoglu, Beren, Muratoglu, Bihter, Ozdemir, Cansu, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Taskiran, Ekim Z.

Source: International Journal of Molecular Sciences; Feb2025, Vol. 26 Issue 3, p1134, 17p

Subject Terms: TRANSFORMING growth factors-beta, EXTRACELLULAR matrix, BONE growth, CONNECTIVE tissues, DYSPLASIA, CELL motility

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Authors: Motta, Marialetizia, Fasano, Giulia, Gredy, Sina, Brinkmann, Julia, Bonnard, Adeline Alice, Simsek-Kiper, Pelin Ozlem, Gulec, Elif Yilmaz, Essaddam, Leila, Utine, Gulen Eda, Guarnetti Prandi, Ingrid, Venditti, Martina, Pantaleoni, Francesca, Radio, Francesca Clementina, Ciolfi, Andrea, Petrini, Stefania, Consoli, Federica, Vignal, Cédric, Hepbasli, Denis, Ullrich, Melanie, de Boer, Elke, Vissers, Lisenka E.L.M., Gritli, Sami, Rossi, Cesare, De Luca, Alessandro, Ben Becher, Saayda, Gelb, Bruce D., Dallapiccola, Bruno, Lauri, Antonella, Chillemi, Giovanni, Schuh, Kai, Cavé, Hélène, Zenker, Martin, Tartaglia, Marco

Source: In The American Journal of Human Genetics 4 November 2021 108(11):2112-2129

Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study

Authors: Kaya Akca, Ummusen, Simsek Kiper, Pelin Ozlem, Urel Demir, Gizem, Sag, Erdal, Atalay, Erdal, Utine, Gulen Eda, Alikasifoglu, Mehmet, Boduroglu, Koray, Bilginer, Yelda, Ozen, Seza

Source: In European Journal of Medical Genetics April 2021 64(4)

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

Authors: Akgün-Doğan, Özlem, Simsek-Kiper, Pelin Ozlem, Taskiran, Ekim, Schossig, Anna, Utine, Gülen Eda, Zschocke, Johannes, Boduroglu, Koray

Source: Journal of child neurology. 36(10):816-822

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627624218&indx=1&recIds=ETOCRN627624218

A rare cause of syndromic short stature: 3M syndrome in three families

Authors: Isik, Esra, Arican, Duygu, Atik, Tahir, Ooi, Joo Enn, Darcan, Sukran, Ozen, Samim, Simsek Kiper, Pelin Ozlem, Utine, Eda, Cogulu, Ozgur, Ozkinay, Ferda

Source: American journal of medical genetics.Part A. 185(2):461-468

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187345656.0x000001&indx=1&recIds=ETOCvdc_100187345656.0x000001

Intrafamilial variability of XYLT2-related spondyloocular syndrome

Authors: Guleray, Naz, Simsek Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray, Alikasifoglu, Mehmet

Source: In European Journal of Medical Genetics November 2019 62(11)

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing

Authors: Guleray, Naz, Kosukcu, Can, Taskiran, Zihni Ekim, Simsek Kiper, Pelin Ozlem, Utine, Gulen Eda, Gucer, Safak, Tokatli, Aysegul, Boduroglu, Koray, Alikasifoglu, Mehmet

Source: Fetal and pediatric pathology. 39(2):163-171

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111087452.0x000001&indx=1&recIds=ETOCvdc_100111087452.0x000001

Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia

Authors: Vuralli, Dogus, Kosukcu, Can, Taskiran, Ekim, Simsek-Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray, Alikasifoglu, Ayfer, Alikasifoglu, Mehmet

Source: Molecular syndromology. 11(4):207-216

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100109355682.0x000001&indx=1&recIds=ETOCvdc_100109355682.0x000001

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.

Authors: Karaosmanoglu, Beren, Imren, Gozde, Ozisin, M. Samil, Reçber, Tuba, Simsek Kiper, Pelin Ozlem, Haliloglu, Goknur, Alikaşifoğlu, Mehmet, Nemutlu, Emirhan, Taskiran, Ekim Z., Utine, Gulen Eda

Source: Molecular Biology Reports; 9/13/2024, Vol. 51 Issue 1, p1-15, 15p

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate

Authors: Simsek-Kiper, Pelin Ozlem, Kosukcu, Can, Akgun-Dogan, Ozlem, Gocmen, Rahsan, Utine, Gulen Eda, Soyer, Tutku, Korkmaz-Toygar, Ayse, Nishimura, Gen, Alikasifoglu, Mehmet, Boduroglu, Koray

Source: In European Journal of Medical Genetics January 2019 62(1):21-26

Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome

Authors: Simsek‐Kiper, Pelin Ozlem, Taskiran, Ekim, Kosukcu, Can, Arslan, Umut Ece, Cormier‐Daire, Valérie, Gonc, Nazlı, Ozon, Alev, Alikasifoglu, Ayfer, Kandemir, Nurgun, Utine, Gulen Eda, Alanay, Yasemin, Alikasifoglu, Mehmet, Boduroglu, Koray

Source: American journal of medical genetics.Part A. 179(7):1157-1172

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083919438.0x000001&indx=1&recIds=ETOCvdc_100083919438.0x000001

Mutated Transcripts of ZEB2Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Authors: Güleray Lafcı, Naz, Karaosmanoglu, Beren, Taskiran, Ekim Z., Simsek-Kiper, Pelin Ozlem, Utine, Gülen Eda

Source: Molecular Syndromology; June 2023, Vol. 14 Issue: 3 p258-266, 9p

Editorial: Advancing our understanding of the genetic and functional basis of skeletal dysplasia.

Authors: Long Guo, Rong Qiang, Yi Zhang, Simsek-Kiper, Pelin Ozlem

Source: Frontiers in Genetics; 1/27/2023, Vol. 14, p1-3, 3p

Subject Terms: SKELETAL dysplasia, DYSPLASIA

Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?

Authors: Hizal, Mina, Satırer, Ozlem, Polat, Sanem Eryilmaz, Tural, Dilber Ademhan, Ozsezen, Beste, Sunman, Birce, Karahan, Sevilay, Emiralioglu, Nagehan, Simsek-Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray, Yalcin, Ebru, Dogru, Deniz, Kiper, Nural, Ozcelik, Ugur

Source: European Journal of Pediatrics; Feb2022, Vol. 181 Issue 2, p735-743, 9p, 5 Charts

Subject Terms: SLEEP apnea syndromes, DOWN syndrome, SYNDROMES in children, APNEA, SLEEP disorders, POLYSOMNOGRAPHY, INTERVIEWING, SEVERITY of illness index, DESCRIPTIVE statistics, SOCIODEMOGRAPHIC factors, PASSIVE smoking, COMORBIDITY, PARENTS, DISEASE risk factors, CHILDREN