Fatma Gümrük - Publications, H-index & Citations

Fatma Gümrük

washington university (wustl)

29H指数

300论文数

3.4K被引数

收录论文 29

发表时间

Retinal and Choroidal Circulation Impairments in Fanconi Anemia

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2025-04-01

PREAI

Aygun, Figen bezci; Tokyurek, Merve Ozge Algedik; Unal, Sule; Gumruk, Fatma; Kadayifcilar, Sibel

Reply to Correspondence on Retinal and Choroidal Circulation Impairments in Fanconi Anemia 回复关于范可尼贫血中视网膜和脉络膜循环障碍的通信

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2025-02-01

PREAI

Aygün, FB; Tokyürek, MÖA; Unal, S; Gümrük, F; Kadayifcilar, S

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-07-01

OAAI

Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Isikay, Sedat; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (vol 108, pg 1301, 2021)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-07-01

OAAI

Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Thanh Thao Nguyen Ly; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Ikay, Sedat Is Comma; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno

Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature

FRONTIERS IN PHYSIOLOGY

IF3.4

2021-06-11

OAAI

Karaosmanoglu, Beren; Kursunel, M. Alper; Uckan Cetinkaya, Duygu; Gumruk, Fatma; Esendagli, Gunes; Unal, Sule; Taskiran, Ekim Z.

A rare form of congenital neutropenia: VPS45 deficiency

SCANDINAVIAN JOURNAL OF IMMUNOLOGY

IF1.6

2020-02-27

OAAI

Karaatmaca, Betul; Cagdas, Deniz; Tan, Cagman; Aytac, Selin; Ozbek, Begum; Uner, Aysegul; Gumruk, Fatma; Tezcan, Ilhan

A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2019-08-20

PREAI

Cagdas, Deniz; Halacli, Sevil Oskay; Tan, Cagman; Lo, Bernice; Cetinkaya, Pinar Gur; Esenboga, Saliha; Karaatmaca, Betuel; Matthews, Helen; Balci-Hayta, Burcu; Arikoglu, Tuba; Ezgu, Fatih; Aladag, Elifcan; Saltik-Temizel, Inci N.; Demir, Huelya; Kuskonmaz, Baris; Okur, Visal; Gumruk, Fatma; Goker, Hakan; Cetinkaya, Duygu; Boztug, Kaan; Lenardo, Michael; Sanal, Oezden; Tezcan, Ilhan

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

JOURNAL OF RHEUMATOLOGY

IF3.4

2019-05-01

PREAI

Ozen, Seza; Batu, Ezgi Deniz; Taskiran, Ekim Z.; Ozkara, Hatice Asuman; Unal, Sule; Guleray, Naz; Erden, Abdulsamet; Karadag, Omer; Gumruk, Fatma; Cetin, Mualla; Sonmez, Hafize Emine; Bilginer, Yelda; Ayvaz, Deniz Cagdas; Tezcan, Ilhan

Comparison of different types of twin pregnancies in terms of obstetric and perinatal outcomes: association of vanished twins with methylenetetrahydrofolate reductase (MTHFR) polymorphism(s)

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

IF2.7

2018-10-25

OAAI

Ozek, Murat Aykut; Karaagaoglu, Ergun; Orgul, Gokcen; Gumruk, Fatma; Yurdakok, Murat; Beksac, M. Sinan

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1 抑癌基因BRCA1纯合无义突变的生存机制

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2018-04-30

OAAI

Seo, Aaron; Steinberg-Shemer, Orna; Unal, Sule; Casadei, Silvia; Walsh, Tom; Gumruk, Fatma; Shalev, Stavit; Shimamura, Akiko; Akarsu, Nurten Ayse; Tamary, Hannah; King, Mary-Claire

The clinical and laboratory evaluation of familial hemophagocytic lymphohistiocytosis and the importance of hepatic and spinal cord involvement: a single center experience

HAEMATOLOGICA

IF7.9

2017-11-16

OAAI

Beken, Burcin; Aytac, Selin; Balta, Gunay; Kuskonmaz, Baris; Uckan, Duygu; Unal, Sule; Cetin, Mualla; Gumruk, Fatma

Macrophage activation syndrome in children with systemic juvenile idiopathic arthritis and systemic lupus erythematosus 儿童系统性幼年特发性关节炎和系统性红斑狼疮的巨噬细胞活化综合征

RHEUMATOLOGY INTERNATIONAL

IF2.9

2016-08-10

PREAI

Aytac, Selin; Batu, Ezgi Deniz; Unal, Sule; Bilginer, Yelda; Cetin, Mualla; Tuncer, Murat; Gumruk, Fatma; Ozen, Seza

Iron chelation with deferasirox in a patient with de-novo ferroportin mutation

JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

IF3.3

2015-04-01

PREAI

Unal, Sule; Piperno, Alberto; Gumruk, Fatma

Biochemical markers of glucose metabolism may be used to estimate the degree and progression of iron overload in the liver and pancreas of patients with β-thalassemia major

ANNALS OF HEMATOLOGY

IF2.4

2015-03-06

PREAI

Bas, Munevver; Gumruk, Fatma; Gonc, Nazli; Cetin, Mualla; Tuncer, Murat; Hazirolan, Tuncay; Yildirim, Gokce; Karabulut, Erdem; Unal, Sule

Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations

THROMBOSIS RESEARCH

IF3.4

2014-10-01

PREAI

Watzka, Matthias; Geisen, Christof; Scheer, Monika; Wieland, Regina; Wiegering, Verena; Doerner, Thomas; Laws, Hans-Juergen; Guemruek, Fatma; Hanalioglu, Sahin; Uenal, Sule; Albayrak, Davut; Oldenburg, Johannes

Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL 由于Artemis缺陷引起的非典型联合免疫缺陷: 一例表现为高免疫球蛋白M综合征和LGLL的病例

MOLECULAR IMMUNOLOGY

IF3

2013-12-01

PREAI

Bajin, Inci Yaman; Ayyaz, Deniz Cagdas; Unal, Sule; Ozgur, Tuba Turul; Cetin, Mualla; Gumruk, Fatma; Tezcan, Ilhan; de Villartay, Jean-Pierre; Sanal, Ozden

Hemophagocytosis associated with leukemia: a striking association with juvenile myelomonocytic leukemia 与白血病相关的噬血细胞症: 与青少年粒单核细胞白血病的惊人联系

ANNALS OF HEMATOLOGY

IF2.4

2009-10-02

PREAI

Unal, Sule; Cetin, Mualla; Kutlay, Nuket Yurur; Elmas, Selin Aytac; Gumruk, Fatma; Tukun, Ajlan; Tuncer, Murat; Gurgey, Aytemiz

Value of Dual Energy Computed Tomography for detection of myocardial iron deposition in Thalassaemia patients: Initial experience

EUROPEAN JOURNAL OF RADIOLOGY

IF3.3

2008-12-01

PREAI

Hazirolan, Tuncay; Akpinar, Burcu; Unal, Sule; Gumruk, Fatma; Haliloglu, Mithat; Alibek, Sedat

Lymphocytic vacuolization in sialic acid storage disease

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2007-11-29

OAAI

Kuskonmaz, Baris; Unal, Sule; Cordukcu, Emine; Aydin, Halil; Coskun, Turgay; Gurgey, Aytemiz; Gumruk, Fatma

Severe Henoch-Schonlein purpura in a thalassemic patient under deferiprone treatment

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2007-08-21

OAAI

Unal, Sule; Gucer, Safak; Kale, Guesev; Besbas, Nesrin; Ozen, Seza; Gumruk, Fatma

研究方向