Pinar T Ozand: search on Z-Library

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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

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

3

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

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

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

6

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

7

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

8

ALANINE UTILIZATION IN THE NEWBORN

Gutberlet, Ronald L, Quartner, Jeffrey, Merchant, Kulsum, Eshai, Rupla, Cornblath, Marvin, Ozand, Pinar

Journal:

Pediatric Research

Year:

1974

Language:

english

File:

PDF, 144 KB

english, 1974

9

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

10

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

11

A REPORT ON PHOSPHATIDYLCHOLINE THERAPY IN A DOWN SYNDROME CHILD

CANTOR, DAVID S., THATCHER, ROBERT W., OZAND, PINAR, KUMIN, LIBBY, ROTHSCHILD, JONATHAN

Journal:

Psychological Reports

Year:

1986

Language:

english

File:

PDF, 434 KB

english, 1986

12

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

Rashed, Mohamed S, Bucknall, Martin P, Little, Douglas, Awad, Amin, Jacob, Minnie, Alamoudi, Mohamed, Alwattar, Mona, Ozand, Pinar T

Journal:

Clinical Chemistry

Year:

1997

File:

PDF, 299 KB

1997

13

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

14

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

15

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

16

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

17

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

18

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

19

Increase in Glutaminase Activity during the Growth Cycle of Cultured Human Diploid Fibroblasts

Sevdalian, David A., Ozand, Pinar T., Zielke, H. Ronald

Journal:

Year:

1980

File:

PDF, 170 KB

1980

20

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

21

Peroxisomal bifunctional enzyme deficiency with associated retinal findings

Al-Hazzaa, Selwa A.F., Ozand, Pinar T.

Journal:

Ophthalmic Genetics

Year:

1997

Language:

english

File:

PDF, 1.60 MB

english, 1997

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

The Effects of Maternal Ethanol Consumption in the Rat on the Development of their Offspring

Detering, Nancy, Reed, W. Douglas, Ozand, Pinar T., Karahasan, Alp

Journal:

Journal of Nutrition

Year:

1979

Language:

english

File:

PDF, 1.20 MB

english, 1979

32

Glutaric Aciduria Type 1: First Reported Cases in Three Saudi Patients

Coates, Robert, Rashed, Mohammed, Rahbeeni, Zuhair, Al-Garawi, Sami, Al-Odaib, Ali N., Sakati, Nadia, Gascon, Generoso, Worthen, Howard, Ozand, Pinar T.

Journal:

Annals of Saudi Medicine

Year:

1994

Language:

english

File:

PDF, 1.25 MB

english, 1994

33

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

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

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

36

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

37

ALTERED PYRIMIDINE METABOLISM IN RBC OF 4 PATIENTS WITH CONGENITAL HYPOPLASTIC ANEMIA (CHA)

Zielko, H Ronald, Ozand, Pinar T, Luddy, Ruth E, Zinkham, William H, Cornbiath, Marvin

Journal:

Pediatric Research

Year:

1977

Language:

english

File:

PDF, 142 KB

english, 1977

38

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

39

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

40

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

41

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

42

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

43

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

44

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

45

148: Biochemical Studies of Glycerol Neurotoxicity

Tildon, J Tyson, Ozand, Pinar, Karahasan, Alp, Cornblath, Marvin, Hommes, F A

Journal:

Pediatric Research

Year:

1976

Language:

english

File:

PDF, 158 KB

english, 1976

46

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

47

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

48

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

49

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

50

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

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