Search Results - "Kiper, Pelin Özlem"

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 by Bögershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Hülya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin Özlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume, Strom, Tim M., Fabre, Aurélie, Baynam, Gareth, Sanchez, Elodie, Nürnberg, Gudrun, Altunoglu, Umut, Capri, Yline, Isidor, Bertrand, Lacombe, Didier, Corsini, Carole, Cormier-Daire, Valérie, Sanlaville, Damien, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nürnberg, Peter, Meitinger, Thomas, Boduroglu, Koray, Zoll, Barbara, Lyonnet, Stanislas, Tzschach, Andreas, Verloes, Alain, Di Donato, Nataliya, Touitou, Isabelle, Netzer, Christian, Li, Yun, Geneviève, David, Yigit, Gökhan, Wollnik, Bernd

“…ABSTRACT Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a…”
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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias by Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie

“…Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities,…”
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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features by Kındış, Erdem, Simsek‐Kiper, Pelin Özlem, Koşukcu, Can, Taşkıran, Ekim Z., Göçmen, Rahşan, Utine, Eda, Haliloğlu, Göknur, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

“…Colony stimulating factor 1 receptor (CSF1R, MIM# 164770) encodes a tyrosine‐kinase receptor playing an important role in development of osteoclasts and…”
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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features by Arman, Ahmet, Bereket, Abdullah, Coker, Ajda, Kiper, Pelin Özlem Simşek, Güran, Tülay, Ozkan, Behzat, Atay, Zeynep, Akçay, Teoman, Haliloglu, Belma, Boduroglu, Koray, Alanay, Yasemin, Turan, Serap

“…To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to…”
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Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants? by Nayır Büyükşahin, Halime, Emiralioğlu, Nagehan, Yalçın, Ebru, Ozcan, H. Nursun, Oğuz, Berna, Utine, Gülen Eda, Kiper, Pelin Özlem, Karaosmanoğlu, Beren, Orhan, Diclehan, Unal, Sule, Güzelkaş, İsmail, Alboğa, Didem, Doğru, Deniz, Özçelik, Uğur, Kiper, Nural

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Recurrent fractures and an unusual diagnosis: Pycnodysostosis by Gurbanov, Anar, Kiper, Pelin Özlem Şimşek, Tekşam, Özlem

“…Introduction Pycnodysostosis (OMIM #265800), a rare genetic disease of the skeleton, was first described in 1962 by Maroteaux and Lamy and Adren et al.1,2 The…”
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Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum by Güleray, Naz, Koşukcu, Can, Oğuz, Sümeyra, Ürel Demir, Gizem, Taşkıran, Ekim Z., Kiper, Pelin Özlem Şimşek, Utine, Gülen Eda, Alanay, Yasemin, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

“…Objective Oculoauriculovertebral spectrum (OAVS) is a genetically and clinically heterogeneous disorder that occurs due to a developmental field defect of the…”
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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes by Bramswig, Nuria C., Lüdecke, Hermann-Josef, Alanay, Yasemin, Albrecht, Beate, Barthelmie, Alexander, Boduroglu, Koray, Braunholz, Diana, Caliebe, Almuth, Chrzanowska, Krystyna H., Czeschik, Johanna Christina, Endele, Sabine, Graf, Elisabeth, Guillén-Navarro, Encarna, Kiper, Pelin Özlem Simsek, López-González, Vanesa, Parenti, Ilaria, Pozojevic, Jelena, Utine, Gulen Eda, Wieland, Thomas, Kaiser, Frank J., Wollnik, Bernd, Strom, Tim M., Wieczorek, Dagmar

“…Coffin–Siris syndrome (CSS) and Nicolaides–Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent…”
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Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome by Daşar, Tuğba, Gönen, Hasibe Nesligül, Kösemehmetoğlu, Kemal, Tekşam, Özlem, Boduroğlu, Koray, Utine, Gülen Eda, Şimşek Kiper, Pelin Özlem

“…Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of…”
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Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature by Akalın, Akçahan, Taskiran, Ekim Z., Şimşek‐Kiper, Pelin Özlem, Utine, Eda, Alanay, Yasemin, Özçelik, Uğur, Boduroğlu, Koray

“…Spondyloepimetaphyseal dysplasia (SEMD) is a group of genetic skeletal disorders characterized by disproportionate short stature, and varying degrees of…”
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The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma by Kolkıran, Abdulkerim, Karaosmanoğlu, Beren, Taşkıran, Zihni Ekim, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda

“…Mucolipidosis type 3 gamma (ML-IIIγ) is an autosomal recessive, rare and slowly progressive lysosomal storage disease. Short stature, restricted joint…”
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Peters Plus syndrome: a recognizable clinical entity by Demir, Gizem Ürel, Lafcı, Naz Güleray, Doğan, Özlem Akgün, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda

“…Peters plus syndrome is a rare genetic condition wherein multiple systemic involvement with distinctive facial features are manifested, whilst the hallmark is…”
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Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings by Soyer, Tutku, Karaosmanoglu, Beren, Taskiran, Ekim Z., Kiper, Pelin Özlem Şimşek, Karnak, İbrahim, Boduroğlu, Koray, Utine, Gülen Eda

“…Pyloric atresia (PA) is a rare gastrointestinal anomaly that occurs either as an isolated lesion or in association with other congenital or hereditary…”
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Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report by Şahin, Ezgi Aysu, Taşkıran, Ekim Zihni, Kiper, Pelin Özlem Şimşek, Aydın, Burça, Utine, Eda

“…Background Xeroderma pigmentosum is an extremely serious genetic disorder defined by sensitivity to sunlight, resulting in sunburn and pigment changes. If…”
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Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type by Van Damme, Tim, Colige, Alain, Syx, Delfien, Giunta, Cecilia, Lindert, Uschi, Rohrbach, Marianne, Aryani, Omid, Alanay, Yasemin, Simsek-Kiper, Pelin Özlem, Kroes, Hester Y., Devriendt, Koen, Thiry, Marc, Symoens, Sofie, De Paepe, Anne, Malfait, Fransiska

“…Purpose: The Ehlers–Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of…”
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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations by Iida, Aritoshi, Simsek-Kiper, Pelin Özlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hülya, Utine, Gülen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro

“…ABSTRACT Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long‐bone abnormalities. Based on the…”
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A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome by Doğan, Özlem Akgün, Şimşek Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray

“…Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked…”
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Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance by Kiper, Pelin Özlem Şimşek, Utine, Gülen Eda, Boduroğlu, Koray, Alanay, Yasemin

“…We describe a 3‐month‐old male infant with cleft palate, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of…”
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A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia by Şimşek‐Kiper, Pelin Özlem, Karaosmanoğlu, Beren, Taşkıran, Ekim Zihni, Türer, Özlem Boybeyi, Utine, Gülen Eda, Soyer, Tutku

“…Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia,…”
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Evaluation of polysomnography findings in children with genetic skeletal disorders by Nayır Büyükşahin, Halime, Emiralioglu, Nagehan, Simşek Kiper, Pelin Özlem, Sunman, Birce, Güzelkaş, Ismail, Alboğa, Didem, Akgül Erdal, Meltem, Boduroglu, Koray, Utine, Gülen Eda, Yalcın, Ebru, Doğru, Deniz, Kiper, Nural, Ozcelik, Ugur

“…Children with genetic skeletal disorders have variable conditions that can lead to sleep-disordered breathing, and polysomnography is the gold standard for…”
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