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1

Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies

Molinari, Elisa, Sayer, John A., Gunay-Aygun, Meral

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 443 KB

english, 2019

2

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conference

Meral Gunay-Aygun, Ellis D. Avner, Robert L. Bacallao, Peter L. Choyke, Joseph T. Flynn, Gregory G. Germino, Lisa Guay-Woodford, Peter Harris, Theo Heller, Julie Ingelfinger, Frederick Kaskel, Robert

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 161 KB

english, 2006

3

LIPID PEROXIDATION AND ANTIOXIDANT STATUS IN ß-THALASSEMIA

Meral, Adalet, Tuncel, Pínar, Sürmen-Gür, Esma, Özbek, Resul, Öztürk, Ercan, GÜnay, Ünsal

Journal:

Pediatric Hematology-Oncology

Year:

2000

Language:

english

File:

PDF, 177 KB

english, 2000

4

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients

Lindsey, Spencer, Brewer, Carmen, Stakhovskaya, Olga, Kim, Hung Jeffrey, Zalewski, Chris, Bryant, Joy, King, Kelly A., Naggert, Jürgen K., Gahl, William A., Marshall, Jan D., Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 897 KB

english, 2017

5

Emotions and coping methods of Turkish parents of children with cancer

Günay, Ulviye, Özkan, Meral

Journal:

Journal of Psychosocial Oncology

Year:

2019

File:

PDF, 1.18 MB

2019

6

Reply to “Comment on ‘An Alternative View of the Microseismicity along the Western Main Marmara Fault’ by E. Batsi et al.” by Y. Yamamoto et al.

Batsi, Evangelia, Lomax, Anthony, Tary, Jean‐Baptiste, Klingelhoefer, Frauke, Riboulot, Vincent, Murphy, Shane, Monna, Stephen, Özel, Nurcan Meral, Saritas, Hakan, Cifçi, Günay, Çagatay, Namik, Gasper

Journal:

Bulletin of the Seismological Society of America

Year:

2020

Language:

english

File:

PDF, 657 KB

english, 2020

7

Clinical and locus heterogeneity in brachydactyly type C

Robin, Nathaniel H., Gunay-Aygun, Meral, Polinkovsky, Alexander, Warman, Matthew L., Morrison, Stuart

Journal:

American Journal of Medical Genetics

Year:

1997

File:

PDF, 966 KB

1997

8

Foster UG (1996): Letter to the editor: Academicians are more likely to share each other's toothbrush than each other's nomenclature [Cohen, 1982]. Am J Med Genet 66:471-474

Robin, Nathaniel H., Gunay-Aygun, Meral, Polinkovsky, Alexander, Warman, Matthew L., Morrison, Stuart

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 35 KB

english, 1997

9

Efficacy of immunization against hepatitis B virus infection in children with cancer

Adalet Meral, Betül Sevinir, Ünsal Günay

Journal:

Pediatric Blood & Cancer

Year:

2000

Language:

english

File:

PDF, 96 KB

english, 2000

10

Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)

Shilpa Chetty-John, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Roxanne E. Fischer, Theo Heller, William A. Gahl, Meral Gunay-Aygun

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 201 KB

english, 2010

11

Liver and kidney disease in ciliopathies

Meral Gunay-Aygun

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2009

Language:

english

File:

PDF, 333 KB

english, 2009

12

Increased risk of chronic hepatitis in children with cancer

Betül Sevinir, Adalet Meral, Ünsal Günay, Tanju Özkan, Sema Özuysal, Melda Sinirtas

Journal:

Pediatric Blood & Cancer

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

13

Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation

Gunay Balta, Hamza Okur, Sule Unal, Nese Yaralı, Adalet Meral Gunes, Selma Unal, Meral Turker, Elif Guler, Mehmet Ertem, Meryem Albayrak, Turkan Patiroglu, Aytemiz Gurgey

Journal:

Leukemia Research

Year:

2010

Language:

english

File:

PDF, 140 KB

english, 2010

14

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Baris Turkbey, Iclal Ocak, Kailash Daryanani, Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, Maya Tuchman, Parvathi Mohan, Theo Heller, William A. Gahl, Peter L. Choyke, Meral Gunay-Aygun

Journal:

Pediatric Radiology

Year:

2009

Language:

english

File:

PDF, 1.06 MB

english, 2009

15

Genetic basis of cystinosis in Turkish patients: a single-center experience

Rezan Topaloglu, Thierry Vilboux, Turgay Coskun, Fatih Ozaltin, Brad Tinloy, Meral Gunay-Aygun, Aysin Bakkaloglu, Nesrin Besbas, Lambert van den Heuvel, Robert Kleta, William A. Gahl

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

16

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

Jill A. Fahrner, Aisha Frazier, Suha Bachir, Michael F. Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M. Murphy, Meral Gunay-Aygun

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 526 KB

english, 2012

17

MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome

Meral Gunay-Aygun, Melissa A. Parisi, Dan Doherty, Maya Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Baris Turkbey, Peter Choyke, Lisa Guay-Woodford, Theo Heller, Katarzyna Szymanska,

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 1.93 MB

english, 2009

18

Neuronal migration disorders presenting with mild clinical symptoms

Meral Günay, Sabiha Aysun

Journal:

Pediatric Neurology

Year:

1996

Language:

english

File:

PDF, 200 KB

english, 1996

19

Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak–Higashi syndrome

Wafika Zarzour, Robert Kleta, Haydar Frangoul, Pim Suwannarat, Anna Jeong, Su Young Kim, Alan S. Wayne, Meral Gunay-Aygun, James White, Alexandra H. Filipovich, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.31 MB

english, 2005

20

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

Meral Gunay-Aygun, Maya Tuchman, Esperanza Font-Montgomery, Linda Lukose, Hailey Edwards, Angelica Garcia, Surasawadee Ausavarat, Shira G. Ziegler, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Rox

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 201 KB

english, 2010

21

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease

Meral Gunay-Aygun, Baris I. Turkbey, Joy Bryant, Kailash T. Daryanani, Maya Tuchman Gerstein, Katie Piwnica-Worms, Peter Choyke, Theo Heller, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 629 KB

english, 2011

22

Vitamin A for varicella

Şinasi Özsoylu, A.Pinar Cemeroğlu, Meral Günay, MD

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 190 KB

english, 1994

23

Acute ascending myelitis and encephalopathy after intrathecal cytosine arabinoside and methotrexate in an adolescent boy with acute lymphoblastic leukemia

Alev Özön, Haluk Topalogˇlu, Aysenur Cila, Meral Günay, Mualla Çetin

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 340 KB

english, 1994

24

Hypertrophic cardiomyopathy: How far should we go with genetic testing?

Fahrner, Jill A., Murphy, Anne M., Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

25

Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

Meral Gunay–Aygun, Esperanza Font–Montgomery, Linda Lukose, Maya Tuchman Gerstein, Katie Piwnica–Worms, Peter Choyke, Kailash T. Daryanani, Baris Turkbey, Roxanne Fischer, Isa Bernardini, Murat Sincan

Journal:

Gastroenterology

Year:

2013

Language:

english

File:

PDF, 2.62 MB

english, 2013

26

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics *

Huizing, Marjan, Helip-Wooley, Amanda, Westbroek, Wendy, Gunay-Aygun, Meral, Gahl, William A.

Journal:

Annual Review of Genomics and Human Genetics

Year:

2008

Language:

english

File:

PDF, 2.22 MB

english, 2008

27

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Gunay-Aygun, Meral, Falik-Zaccai, Tzipora C, Vilboux, Thierry, Zivony-Elboum, Yifat, Gumruk, Fatma, Cetin, Mualla, Khayat, Morad, Boerkoel, Cornelius F, Kfir, Nehama, Huang, Yan, Maynard, Dawn, Dorwar

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 388 KB

english, 2011

28

Neurologic features as initial presentations of childhood malignancies

Aysun, Sabiha, Topçu, Meral, Günay, Meral, Topaloǧlu, Haluk

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 412 KB

english, 1994

29

Reply

Gunay–Aygun, Meral, Gahl, William A.

Journal:

Gastroenterology

Year:

2013

Language:

english

File:

PDF, 153 KB

english, 2013

30

THE INFLUENCE OF RISK FACTORS IN PROMOTING THROMBOSIS DURING CHILDHOOD: The Role of Acquired Factors

Günes, Adalet Meral, Baytan, Birol, Günay, Ünsal

Journal:

Pediatric Hematology-Oncology

Year:

2006

Language:

english

File:

PDF, 116 KB

english, 2006

31

Pregnancy in autosomal recessive polycystic kidney disease

Banks, Nicole, Bryant, Joy, Fischer, Roxanne, Huizing, Marjan, Gahl, William A., Gunay-Aygun, Meral

Journal:

Archives of Gynecology and Obstetrics

Year:

2015

Language:

english

File:

PDF, 153 KB

english, 2015

32

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis

Diehl, Adam, Mu, Weiyi, Batista, Denise, Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 950 KB

english, 2015

33

Mo1240 Spleen and Liver Volumes Are Strongly Correlated With Elevated Hepatic Venous Pressure Gradient in Patients With Non-Cirrhotic Portal Hypertension

Etzion, Ohad, Adebogun, Akeem, Eccleston, Jason, Gharib, Ahmed M., Kleiner, David E., Gunay-Aygun, Meral, Childs, Richard, Rosenzweig, Sergio, Fuss, Ivan J., Malech, Harry, Strobe, Warren, Uzel, Gulbu

Journal:

Gastroenterology

Year:

2015

Language:

english

File:

PDF, 711 KB

english, 2015

34

The York Platelet Syndrome: A third case

White, James G., Gunay-Aygun, Meral

Journal:

Year:

2011

Language:

english

File:

PDF, 7.93 MB

english, 2011

35

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Cullinane, Andrew R, Vilboux, Thierry, O'Brien, Kevin, Curry, James A, Maynard, Dawn M, Carlson-Donohoe, Hannah, Ciccone, Carla, Markello, Thomas C, Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William

Journal:

The Journal of Investigative Dermatology

Year:

2011

Language:

english

File:

PDF, 2.48 MB

english, 2011

36

Molecular Defects that Affect Platelet Dense Granules

Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William A

Journal:

Seminars in Thrombosis and Hemostasis

Year:

2004

Language:

english

File:

PDF, 356 KB

english, 2004

37

Griscelli syndrome: Report of Three Cases

Göğüş, Safiye, Topçu, Meral, Küçükali, Türkan, Akçören, Zuhal, Berkel, Izzet, Ersoy, Figen, Günay, Meral, Saatçi, Işil

Journal:

Fetal and Pediatric Pathology

Year:

1995

Language:

english

File:

PDF, 1.05 MB

english, 1995

38

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Pipitone, Angela, Raval, Donna B., Duis, Jessica, Vernon, Hilary, Martin, Regina, Hamosh, Ada, Valle, David, Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 64 KB

english, 2016

39

[American Thoracic Society American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado - ()] A28. CILIA IN HEALTH AND DISEASE: PRIMARY CILIARY DYSKINESIA AND BRONCHIECTASIS - Screening For Respiratory Ciliary Dysfunction In Autosomal Recessive Polycystic Kidney Disease

Root, Heather B., Gunay-Aygun, Meral, Olivier, Kenneth N.

Year:

2011

Language:

english

File:

PDF, 18 KB

english, 2011

40

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family

Maglic, Dino, Stephen, Joshi, Malicdan, May Christine V., Guo, Jennifer, Fischer, Roxanne, Konzman, Daniel, Mullikin, James C., Gahl, William A., Vilboux, Thierry, Gunay-Aygun, Meral

Journal:

Year:

2016

Language:

english

File:

PDF, 954 KB

english, 2016

41

Tu1726 Characteristics of Liver Disease and Predictors of Portal Hypertension in Patients With Joubert Syndrome

Strongin, Anna, Heller, Theo, Vilboux, Thierry, Malicdan, May, Bryant, Joy, Fischer, Roxanne, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, James, Gahl, William, Gunay-Aygun, Meral

Journal:

Gastroenterology

Year:

2016

Language:

english

File:

PDF, 275 KB

english, 2016

42

Respiratory manifestations in 38 patients with Alström syndrome

Boerwinkle, Caroline, Marshall, Jan D., Bryant, Joy, Gahl, William A., Olivier, Kenneth N., Gunay-Aygun, Meral

Journal:

Pediatric Pulmonology

Year:

2017

Language:

english

File:

PDF, 70 KB

english, 2017

43

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

Ferreira, Carlos R., Chen, Dong, Abraham, Shirley M., Adams, David R., Simon, Karen L., Malicdan, May C., Markello, Thomas C., Gunay-Aygun, Meral, Gahl, William A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.94 MB

english, 2017

44

UGDH germline loss-of-function mutations cause epilepsy and global developmental delay

Bosso-Lefèvre, Célia, Yu, Emily, Grady, George, Szenker, Emmanuelle, Jamuar, Saumya S., Muriello, Michael, Gunay-Aygun, Meral, Koolen, David, Lefeber, Dirk, Hengel, Holger, Schoels, Ludger, Simpson, M

Journal:

Mechanisms of Development

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

45

Spleen and liver volumetrics as surrogate markers of hepatic venous pressure gradient in patients with noncirrhotic portal hypertension

Etzion, Ohad, Takyar, Varun, Novack, Victor, Gharib, Ahmed M., Canales, Raissa, Adebogun, Akeem, Matsumoto, Eric, Eccleston, Jason L., Kleiner, David E., Rosenzweig, Sergio D., Gunay-Aygun, Meral, Uze

Journal:

Hepatology Communications

Year:

2018

Language:

english

File:

PDF, 298 KB

english, 2018

46

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

Waldman, Meryl, Han, Joan C., Reyes-Capo, Daniela P., Bryant, Joy, Carson, Kathryn A., Turkbey, Baris, Choyke, Peter, Naggert, Jürgen K., Gahl, William A., Marshall, Jan D., Gunay-Aygun, Meral

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 585 KB

english, 2018

47

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

Muriello, Michael, Kim, Alexander Y., Sondergaard Schatz, Krista, Beck, Natalie, Gunay-Aygun, Meral, Hoover-Fong, Julie E.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 1.20 MB

2019

48

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

Molinari, Elisa, Ramsbottom, Simon A., Srivastava, Shalabh, Booth, Philip, Alkanderi, Sumaya, McLafferty, Seamus M., Devlin, Laura A., White, Kathryn, Gunay-Aygun, Meral, Miles, Colin G., Sayer, John

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 5.32 MB

english, 2019

49

Clinical characteristics of individual organ system disease in non-motile ciliopathies

Grochowsky, Angela, Gunay-Aygun, Meral, Gunay-Aygun, Meral

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 2.21 MB

english, 2019

50

An Alternative View of the Microseismicity along the Western Main Marmara Fault

Batsi, Evangelia, Lomax, Anthony, Tary, Jean‐Baptiste, Klingelhoefer, Frauke, Riboulot, Vincent, Murphy, Shane, Monna, Stephen, Özel, Nurcan Meral, Kalafat, Dogan, Saritas, Hakan, Cifçi, Günay, Çagata

Journal:

Bulletin of the Seismological Society of America

Year:

2018

Language:

english

File:

PDF, 12.84 MB

english, 2018