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Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
Yilmaz Karapinar, Deniz; Patiroglu, Türkan; Metin, Ayse; Çaliskan, Ümran; Celkan, Tiraje; Yilmaz, Baris; Karakas, Zeynep; Karapinar, Tuba H; Akinci, Burcu; Özkinay, Ferda; Onay, Hüseyin; Yesilipek, Mehmet Akif; Akar, Himmet Haluk; Tüysüz, Gülen; Tokgöz, Hüseyin; Özdemir, Gül Nihal; Aslan Kiykim, Ayça; Karaman, Serap; Kilinç, Yurdanur; Oymak, Yesim; Küpesiz, Alphan; Olcay, Lale; Keskin Yildirim, Zuhal; Aydogan, Gönül; Gökçe, Müge; Ileri, Talia; Aral, Yusuf Ziya; Bay, Ali; Atabay, Berna; Kaya, Zuhre; Söker, Murat; Özdemir Karadas, Nihal; Özbek, Ugur; Özsait Selçuk, Bilge; Özdemir, Hamiyet Hekimci; Uygun, Vedat; Tezcan Karasu, Gülsün; Yilmaz, Sebnem.
Afiliação
  • Yilmaz Karapinar D; Department of Pediatric Hematology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Patiroglu T; Department of Pediatric Immunology, Erciyes University Faculty of Medicine, Izmir, Turkey.
  • Metin A; Department of Pediatric Immunology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey.
  • Çaliskan Ü; Department of Pediatric Hematology-Oncology, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.
  • Celkan T; Department of Pediatric Hematology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Yilmaz B; Department of Pediatric Hematology, Marmara University Faculty of Medicine, Istanbul, Turkey.
  • Karakas Z; Department of Pediatric Hematology-Oncology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Karapinar TH; Department of Pediatric Hematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
  • Akinci B; Department of Pediatric Hematology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Özkinay F; Department of Pediatric Genetic, Ege University Faculty of Medicine, Izmir, Turkey.
  • Onay H; Department of Medical Genetic, Ege University Faculty of Medicine, Izmir, Turkey.
  • Yesilipek MA; Pediatric Bone Marrow Transplantation Unit, Medical Park Göztepe Hospital, Istanbul, Turkey.
  • Akar HH; Department of Pediatric Immunology, Erciyes University Faculty of Medicine, Izmir, Turkey.
  • Tüysüz G; Department of Pediatric Hematology, Akdeniz University Medical School, Antalya, Turkey.
  • Tokgöz H; Department of Pediatric Hematology-Oncology, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.
  • Özdemir GN; Department of Pediatric Hematology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Aslan Kiykim A; Department of Pediatric Allergy and Immunology, Marmara University Faculty of Medicine, Istanbul, Turkey.
  • Karaman S; Department of Pediatric Hematology-Oncology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Kilinç Y; Department of Pediatric Hematology, Çukurova University Faculty of Medicine, Adana, Turkey.
  • Oymak Y; Department of Pediatric Hematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
  • Küpesiz A; Department of Pediatric Hematology, Akdeniz University Medical School, Antalya, Turkey.
  • Olcay L; Department of Pediatric Hematology, Baskent University Faculty of Medicine, Ankara, Turkey.
  • Keskin Yildirim Z; Department of Pediatric Hematology, Atatürk University Faculty of Medicine, Erzurum, Turkey.
  • Aydogan G; Department of Pediatric Hematology, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Turkey.
  • Gökçe M; Department of Pediatric Bone marrow Transplantation Unit, Yeni Yüzyil Üniversitesi, Gaziosmanpasa Hastanesi, Istanbul, Turkey.
  • Ileri T; Department of Pediatric Hematology, Ankara University Medical Faculty, Ankara, Turkey.
  • Aral YZ; Department of Pediatric Hematology, Adnan Menderes University Faculty of Medicine, Aydin, Turkey.
  • Bay A; Department of Pediatric Hematology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.
  • Atabay B; Department of Pediatric Hematology, Tepecik Teaching and Research Hospital, Izmir, Turkey.
  • Kaya Z; Department of Pediatric Hematology, Gazi University Faculty of Medicine, Ankara, Turkey.
  • Söker M; Department of Pediatric Hematology, Dicle University Faculty of Medicine, Diyarbakir, Turkey.
  • Özdemir Karadas N; Balikesir Ataturk City Hospital, Balikesir, Turkey.
  • Özbek U; Department of Genetics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
  • Özsait Selçuk B; Department of Genetics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
  • Özdemir HH; Department of Pediatric Hematology and Oncology, Faculty of Medicine, Firat University, Elazig, Turkey.
  • Uygun V; Pediatric Bone Marrow Transplantation Unit, Medical Park Antalya Hospital, Antalya, Turkey.
  • Tezcan Karasu G; Pediatric Bone Marrow Transplantation Unit, Medical Park Antalya Hospital, Antalya, Turkey.
  • Yilmaz S; Department of Pediatric Hematology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
Pediatr Blood Cancer ; 66(10): e27923, 2019 10.
Article em En | MEDLINE | ID: mdl-31321910
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Adaptadoras de Transdução de Sinal / Síndrome Congênita de Insuficiência da Medula Óssea / Neutropenia Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Turquia País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Adaptadoras de Transdução de Sinal / Síndrome Congênita de Insuficiência da Medula Óssea / Neutropenia Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Turquia País de publicação: Estados Unidos