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1

Identification of Gaucher disease mutations found in Saudi Arabia

Namik Kaya, Fatima Al-Zahrani, Ali Al-Odaib, Zuhair Rahbeeni, Zuhair Al-Hassnan, Fahad Al-Sharif, Pinar Ozand, Moeenaldeen Al-Sayed

Journal:

Blood Cells, Molecules, and Diseases

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

2

Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease

Mohammed A Al-Essa, Siema M Bakheet, Zoltan J Patay, John E Powe, Pinar T Ozand

Journal:

Brain and Development

Year:

2000

Language:

english

File:

PDF, 1.29 MB

english, 2000

3

Autism: a review

Ozand, Pinar, Al-Odaib, Ali, Merza, Hania, Harbi, Saleh

Journal:

Journal of Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 264 KB

english, 2015

4

Aspartoacylase deficiency and Canavan disease in Saudi Arabia

Pinar T. Ozand, Generoso G. Gascon, Mohammed Dhalla

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 309 KB

english, 1990

5

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy

Magnus Stangenberg, Göran Lingman, George Roberts, Pinar Ozand

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 213 KB

english, 1992

6

GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

Namik Kaya, Mohammad Al- Owain, Nada AbuDheim, Jawaher Al- Zahrani, Dilek Colak, Moeen Al- Sayed, Aysel Milanlioglu, Pinar T. Ozand, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 90 KB

english, 2011

7

Successful treatment of cherry red spot—myoclonus syndrome with 5-hydroxytryptophan

Dr. Generoso Gascon, Bradford Wallenberg, Abdul Khadair Daif, Pinar Ozand

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 343 KB

english, 1988

8

Carnitine prevents cyclic GMP-induced inhibition of peroxisomal enzyme activities

Gursev S. Dhaunsi, Mazen Al-Essa, Pinar T. Ozand, Allie Moosa

Journal:

Cell Biochemistry and Function

Year:

2004

Language:

english

File:

PDF, 188 KB

english, 2004

9

Reciprocal regulation of glucose and glutamine utilization by cultured human diploid fibroblasts

Ph.D. H. Ronald Zielke, Pinar T. Ozand, J. Tyson Tildon, David A. Sevdalian, Marvin Cornblath

Journal:

Journal of Cellular Physiology

Year:

1978

Language:

english

File:

PDF, 658 KB

english, 1978

10

Lactate: A major product of glutamine metabolism by human diploid fibroblasts

Dr. H. Ronald Zielke, Carlota M. Sumbilla, David A. Sevdalian, Robert L. Hawkins, Pinar T. Ozand

Journal:

Journal of Cellular Physiology

Year:

1980

Language:

english

File:

PDF, 561 KB

english, 1980

11

Effect of glucose on aspartate and glutamate synthesis by human diploid fibroblasts

H. Ronald Zielke, Carlota M. Sumbilla, Pinar T. Ozand

Journal:

Journal of Cellular Physiology

Year:

1981

Language:

english

File:

PDF, 327 KB

english, 1981

12

A radioisotope assay for l-glutaminase: The measurement of tritiated water formation from the reaction of l-[2-3H]glutamine with the l-glutaminase and glutamate oxalacetate transaminase couple

Carol L. Zielke, H.Ronald Zielke, Pinar T. Ozand

Journal:

Analytical Biochemistry

Year:

1982

Language:

english

File:

PDF, 762 KB

english, 1982

13

Preimplantation genetic diagnosis for Niemann-Pick disease type B

Ali Hellani, Edward H. Schuchman, Ali Al-Odaib, Aida Al Aqueel, Kamal Jaroudi, Pinar Ozand, Serdar Coskun

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 150 KB

english, 2004

14

Pregnancy after preimplantation genetic diagnosis for Sanjad–Sakati syndrome

Ali Hellani, Aida Aqueel, Kamal Jaroudi, Pinar Ozand, Serdar Coskun

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 92 KB

english, 2004

15

Cytogenetic characterization of ataxia telangiectasia (AT) heterozygotes using lymphoblastoid cell lines and chronic γ-irradiation

Manjula Waghray, Sultan Al-Sedairy, Pinar T. Ozand, Mohammed A. Hannan

Journal:

Year:

1990

Language:

english

File:

PDF, 291 KB

english, 1990

16

Nitric oxide promotes mitogen-induced dna synthesis in human dermal fibroblasts through cGMP

Gursev S Dhaunsi, Pinar T Ozand

Journal:

Clinical and Experimental Pharmacology and Physiology

Year:

2004

Language:

english

File:

PDF, 136 KB

english, 2004

17

Comparative Effects of Ethanol and Malnutrition on the Development of Catecholamine Neurons: Changes in Specific Activities of Enzymes

Nancy Detering, Elvira Edwards, Pinar Ozand, Alp Karahasan

Journal:

Journal of Neurochemistry

Year:

1980

Language:

english

File:

PDF, 650 KB

english, 1980

18

Glutaric Aciduria Type II: Observations in Seven Patients With Neonatal- and Late-Onset Disease

Al-Essa, Mohammed A, Rashed, Mohamed S, Bakheet, Siema M, Patay, Zoltan J, Ozand, Pinar T

Journal:

Journal of Perinatology

Year:

2000

Language:

english

File:

PDF, 891 KB

english, 2000

19

Ketone bodies, glucose and glutamine as lipogenic precursors in human diploid fibroblasts

W. Douglas Reed, H. Ronald Zielke, Peter J. Baab, Pinar T. Ozand

Journal:

Year:

1981

Language:

english

File:

PDF, 488 KB

english, 1981

20

The diagnosis and management of MSUD in Saudi Arabia by using two different methods

S. B. Subramanyam, S. M. Hussain Qadri, Mohammed B. Dhalla, Pinar T. Ozand

Journal:

Indian Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 304 KB

english, 1990

21

Chronic γ-radiation sensitivity of skin fibroblasts from patients with non-Hodgkin's lymphoma (NHL)

Mohammed A. Hannan, Blake P. Smith, David Sigut, Edward F. Rabe, Pinar T. Ozand, Mohammed Ashraf Ali, Maged H. Amer

Journal:

Mutation Research Letters

Year:

1989

Language:

english

File:

PDF, 358 KB

english, 1989

22

Application of electrospray tandem mass spectrometry to neonatal screening

Mohamed S. Rashed, Zuhair Rahbeeni, Pinar T. Ozand

Journal:

Seminars in Perinatology

Year:

1999

Language:

english

File:

PDF, 919 KB

english, 1999

23

Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease

Mohammed A. Al-Essa, Layla A. Al-Shamsan, Pinar T. Ozand

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 1.03 MB

english, 1999

24

Hypoglycemia in association with various organic and amino acid disorders

Journal:

Seminars in Perinatology

Year:

2000

Language:

english

File:

PDF, 2.06 MB

english, 2000

25

Elevation of Pyrimidine Enzyme Activities in the RBC of Patients with Congenital Hypoplastic Anaemia and their Parents

H. Ronald Zielke, Pinar T. Ozand, Ruth E. Luddy, William H. Zinkham, Allen D. Schwartz, David A. Sevdalian

Journal:

British Journal of Haematology

Year:

1979

Language:

english

File:

PDF, 558 KB

english, 1979

26

The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII)

Aida Al-Aqeel, Pinar Ozand, Samia Sobki, Wafa Sewairi, Stephen Marx

Journal:

Clinical Endocrinology

Year:

1993

Language:

english

File:

PDF, 834 KB

english, 1993

27

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Jawaher Al-Zahrani, Naji Al-Dosari, Nada AbuDheim, Tarfa A Alshidi, Dilek Colak, Ola Al-Habit, Ali Al-Odaib, Nadia Sakati, Brian Meyer, Pinar T Ozand, Namik Kaya

Journal:

Molecular Cytogenetics

Year:

2011

Language:

english

File:

PDF, 656 KB

english, 2011

28

Enzymes of l-(+)-3-hydroxybutyrate metabolism in the rat

W.Douglas Reed, Pinar T. Ozand

Journal:

Archives of Biochemistry and Biophysics

Year:

1980

Language:

english

File:

PDF, 933 KB

english, 1980

29

The effects of ketone bodies, bicarbonate, and calcium on hepatic mitochondrial ketogenesis

Lois M. Roeder, J.Tyson Tildon, W.Douglas Reed, Pinar T. Ozand

Journal:

Archives of Biochemistry and Biophysics

Year:

1982

Language:

english

File:

PDF, 720 KB

english, 1982

30

Glycerol-induced changes in human serum dopamine β-hydroxylase activity

Alpaslan M. Karahasanoglu, J.Tyson Tildon, Pinar T. Ozand, Noel K. MacLaren

Journal:

Biochemical Pharmacology

Year:

1978

Language:

english

File:

PDF, 346 KB

english, 1978

31

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

Namik Kaya, Mohammad Al-Owain, AlBandary AlBakheet, Dilek Colak, Ali Al-Odaib, Faiqa Imtiaz, Serdar Coskun, Moeenaldeen Al-Sayed, Zuhair Al-Hassnan, Hamad Al-Zaidan, Brian Meyer, Pinar Ozand

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 337 KB

english, 2008

32

A simple, rapid test for the differential diagnosis of glycogen storage disease type 3

Jalaluddin Bhuiyan, Ali N. Al Odaib, Pinar T. Ozand

Journal:

Clinica Chimica Acta

Year:

2003

Language:

english

File:

PDF, 83 KB

english, 2003

33

Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile GM1 gangliosidosis

Mohammed A Al-Essa, Siema M Bakheet, Zoltan J Patay, Randa M Nounou, Pinar T Ozand

Journal:

Brain and Development

Year:

1999

Language:

english

File:

PDF, 98 KB

english, 1999

34

Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations

Mohammed A Al-Essa, Enrique Chaves-Carballo, Pinar T Ozand

Journal:

Pediatric Neurology

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

35

Clinical and cerebral fdg pet scan in a patient with krabbe’s disease

Mohammed A Al-Essa, Siema M Bakheet, Zoltan J Patay, John E Powe, Pinar T Ozand

Journal:

Pediatric Neurology

Year:

2000

Language:

english

File:

PDF, 271 KB

english, 2000

36

HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q

Grant A. Mitchell, Pinar T. Ozand, Marie-France Robert, Lyudmila Ashmarina, Jacqueline Roberts, K. Michael Gibson, Ronald J. Wanders, Shupei Wang, Isabelle Chevalier, E. Plöchl, Henry Miziorko

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 940 KB

english, 1998

37

Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

Wen-Qi Zeng, Eiman Al-Yamani, James S. Acierno, Susan Slaugenhaupt, Tammy Gillis, Marcy E. MacDonald, Pinar T. Ozand, James F. Gusella

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 816 KB

english, 2005

38

Preface

Pinar T. Ozand, Generoso G. Gascon, Mohamed Rashed, Jan Brismar

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 101 KB

english, 1994

39

Glycerol intolerance in a child with intermittent hypoglycemia

Noel K. Maclaren, Carolyn Cowles, Pinar T. Ozand, Robert Shuttee, Marvin Cornblath

Journal:

The Journal of Pediatrics

Year:

1975

Language:

english

File:

PDF, 454 KB

english, 1975

40

Reply

Kaya, Namik, Colak, Dilek, Albakheet, Albandary, Ozand, Pinar T.

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

41

Alanine formation by rat muscle homogenate

Pinar T. Ozand, J.Tyson Tildon, Raul A. Wapnir, Marvin Cornblath

Journal:

Biochemical and Biophysical Research Communications

Year:

1973

Language:

english

File:

PDF, 355 KB

english, 1973

42

Alterations of catecholamine enzymes in several brain regions of victims of sudden infant death syndrome

Pinar T. Ozand, J. Tyson Tildon

Journal:

Year:

1983

Language:

english

File:

PDF, 325 KB

english, 1983

43

Transcriptional profiling of granulosa cells from a patient with recurrent empty follicle syndrome

Mehmet Sait Inan, Saad Al-Hassan, Pinar Ozand, Serdar Coskun

Journal:

Reproductive BioMedicine Online

Year:

2006

Language:

english

File:

PDF, 383 KB

english, 2006

44

Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old

Dilek Colak, Muhammad A Chishti, Al-Bandary Al-Bakheet, Ahmed Al-Qahtani, Mohamed M Shoukri, Malcolm H Goyns, Pinar T Ozand, John Quackenbush, Ben H Park, Namik Kaya

Journal:

Molecular Cancer

Year:

2010

Language:

english

File:

PDF, 3.45 MB

english, 2010

45

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

Rashed, Mohamed S, Ozand, Pinar T, Bucknall, Martin P, Little, Douglas

Journal:

Pediatric Research

Year:

1995

Language:

english

File:

PDF, 629 KB

english, 1995

46

Growth of Human Diploid Fibroblasts in the Absence of Glucose Utilization

H. Ronald Zielke, Pinar T. Ozand, J. Tyson Tildon, David A. Sevdalian and Marvin Cornblath

Journal:

Proceedings of the National Academy of Sciences

Year:

1976

Language:

english

File:

PDF, 1.15 MB

english, 1976

47

[IEEE 2007 IEEE 15th Signal Processing and Communications Applications - Eskisehir, Turkey (2007.06.11-2007.06.13)] 2007 IEEE 15th Signal Processing and Communications Applications - Computational Analysis of Transcriptional Profiling in Dysmorphic Syndrome

Otu, Hasan H., Can, Handan, Kaya, Namik, Al-alwan, Laila, Ozand, Pinar, Inan, Mehmet S.

Year:

2007

Language:

turkish

File:

PDF, 450 KB

turkish, 2007

48

Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Turkey

SAY, Burhan, OZAND, Pinar, BERKEL, Izzet, ÇEVIK, Namik

Journal:

Acta Paediatrica

Year:

1965

Language:

english

File:

PDF, 372 KB

english, 1965

49

Ophthalmic Manifestations of Sanjad-Sakati Syndrome

Al Dhoyan, Norah, Al Hemidan, Amal I., Ozand, Pinar T.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 744 KB

english, 2006

50

Recently Available Techniques Applicable to Genetic Problems in the Middle East

Ozand, Pinar T., Odaib, Ali Al, Sakati, Nadia, Al-Hellani, Ali M.

Journal:

Community Genetics

Year:

2005

Language:

english

File:

PDF, 74 KB

english, 2005

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