Reha M. Toydemir : rechercher sur Z-Library

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Livres
Articles (28)
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1

Sheldon-Hall syndrome

Reha M Toydemir, Michael J Bamshad

Journal:

Orphanet Journal of Rare Diseases

Année:

2009

Langue:

english

Fichier:

PDF, 447 KB

english, 2009

2

Whistling face phenotype without limb abnormalities

Toydemir, Pinar Bayrak, Toydemir, Reha, B�kesoy, I??k

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 110 KB

english, 1999

3

Whistling face syndrome with normal hands and feet

Pinar Bayrak Toydemir, Reha Toydemir, Isik Bokesoy

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 31 KB

english, 2001

4

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

Pinar Bayrak-Toydemir, Jamie McDonald, Nurten Akarsu, Reha M. Toydemir, Fernanda Calderon, Timur Tuncali, Wei Tang, Franklin Miller, Rong Mao

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 212 KB

english, 2006

5

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

Reha M. Toydemir, Harold Chen, Virginia K. Proud, Rick Martin, Hans van Bokhoven, Ben C. J. Hamel, Joep H. Tuerlings, Constantine A. Stratakis, Lynn B. Jorde, Michael J. Bamshad

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 302 KB

english, 2006

6

A deletion 13q34/duplication 14q32.2–14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia

Philip D. Pallister, Adam B. Pallister, Sarah South, Reha Toydemir, John P. Johnson, Linda Beischel, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 2.12 MB

english, 2011

7

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Toydemir, Reha M, Rutherford, Ann, Whitby, Frank G, Jorde, Lynn B, Carey, John C, Bamshad, Michael J

Journal:

Nature Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 314 KB

english, 2006

8

Cytogenetic and molecular characterization of double inversion 3 associated with a cryptic BCR-ABL1 rearrangement and additional genetic changes

Reha Toydemir, Leslie Rowe, Michele Hibbard, Mohamed Salama, Shashirekha Shetty

Journal:

Cancer Genetics and Cytogenetics

Année:

2010

Langue:

english

Fichier:

PDF, 779 KB

english, 2010

9

Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype

Anna-Marie E. Brassington, Sandy S. Sung, Reha M. Toydemir, Trung Le, Amy D. Roeder, Ann E. Rutherford, Frank G. Whitby, Lynn B. Jorde, Michael J. Bamshad

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 943 KB

english, 2003

10

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak-Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David H. Viskochil, John C. Carey, Michael J. Bamshad

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2006

11

L1CAM whole gene deletion in a child with L1 syndrome

Chidsey, Brandalyn A., Baldwin, Erin E., Toydemir, Reha, Ahles, Lauren, Hanson, Heather, Stevenson, David A.

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 237 KB

english, 2014

12

Neoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalities

Salama, Mohamed E., Du, Shouying, Efimova, Olga, Heikal, Nahla M., Wendlandt, Erik, Toydemir, Reha M., South, Sarah, Perkins, Sherrie L., Hussong, Jerry W., Zhan, Fenghuang

Journal:

Leukemia and Lymphoma

Année:

2015

Langue:

english

Fichier:

PDF, 3.89 MB

english, 2015

13

Trisomy 12 Mosaicism Detected by Genomic Microarray in a Newborn Child

Hong, Bo, Zunich, Janice, Openshaw, Amanda, Toydemir, Reha

Journal:

Cancer Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 37 KB

english, 2016

14

The Clinical Spectrum Associated With Xq25q26 Duplications: A Report of Two Novel Duplications and Review of the Literature

Herriges, John, Arch, Ellen, Burgio, Pamela, Baldwin, Erin, LaGrave, Danielle, Lamb, Allen, Toydemir, Reha

Journal:

Cancer Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 44 KB

english, 2016

15

Relation between the Insertion/Deletion Polymorphism of the Angiotensin I Converting Enzyme Gene and Restenosis after Coronary Stenting

Gürlek, Adalet, Güleç, Sadi, Karabulut, Halil, Bokesoy, Isik, Tutar, Eralp, Pamir, Gülgün, Alpman, Ahmet, Toydemir, Reha, Aras, Ömer, Oral, Dervis

Journal:

European Journal of Cardiovascular Prevention & Rehabilitation

Année:

2000

Langue:

english

Fichier:

PDF, 491 KB

english, 2000

16

Clinical features of trisomy 12 mosaicism-Report and review

Hong, Bo, Zunich, Janice, Openshaw, Amanda, M. Toydemir, Reha

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 456 KB

english, 2017

17

Developmental Delay and Colon Polyposis

Samadder, N. Jewel, Burt, Randall W., Toydemir, Reha M.

Journal:

Gastroenterology

Année:

2017

Langue:

english

Fichier:

PDF, 412 KB

english, 2017

18

Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing

Shen, Wei, Paxton, Christian N, Szankasi, Philippe, Longhurst, Maria, Schumacher, Jonathan A, Frizzell, Kimberly A, Sorrells, Shelly M, Clayton, Adam L, Jattani, Rakhi P, Patel, Jay L, Toydemir, Reha,

Journal:

Journal of Clinical Pathology

Année:

2017

Langue:

english

Fichier:

PDF, 2.76 MB

english, 2017

19

8. An evidence-based approach to guide IGH-based reflex testing for plasma cell neoplasms

Zockle, Jodi, Chandler, Brandon, Delgado, Karen, Quigley, Denise, Toydemir, Reha, Andersen, Erica

Journal:

Cancer Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 46 KB

english, 2018

20

44. Ring chromosome 7 in patients with dysplastic features in bone marrow

Paulraj, Prabakaran, Tantravahi, Srinivas, Reddy, Anurag, Longhurst, Maria C., Andersen, Erica F., Prchal, Josef, Toydemir, Reha M., Hong, Bo

Journal:

Cancer Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 52 KB

english, 2018

21

Characterizing Atypical BCL6 Signal Patterns Detected by Digital Fluorescence In Situ Hybridization (FISH) Analysis

Liew, Michael, Rowe, Leslie R., Szankasi, Phillipe, Paxton, Christian N., Kelley, Todd, Toydemir, Reha M., Salama, Mohamed E.

Journal:

Annals of Laboratory Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2018

22

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions

Dugan, Sarah L., Panza, Emanuele, Openshaw, Amanda, Botto, Lorenzo D., Camacho, Jose A., Toydemir, Reha M.

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2018

23

Immunophenotypic and cytogenetic evolution patterns of the neoplastic plasma cells in multiple myeloma relapsed after stem cell transplant

Toydemir, Reha M., Rets, Anton V., Hussong, Jerry W., Atanackovic, Djordje, Salama, Mohamed E.

Journal:

Journal of Hematopathology

Année:

2018

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2018

24

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey

Paulraj, Prabakaran, Palumbos, Janice C., Openshaw, Amanda, Carey, John C., Toydemir, Reha M.

Journal:

Cytogenetic and Genome Research

Année:

2018

Langue:

english

Fichier:

PDF, 667 KB

english, 2018

25

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

Herriges, John C., Arch, Ellen M., Burgio, Pamela A., Baldwin, Erin E., LaGrave, Danielle, Lamb, Allen N., Toydemir, Reha M.

Journal:

Journal of Child Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 336 KB

english, 2018

26

Pediatric acute myeloid leukemia with t(7;21)(p22;q22)

Paulraj, Prabakaran, Diamond, Steven, Razzaqi, Faisal, Ozeran, Dan, Longhurst, Maria, Andersen, Erica F., Toydemir, Reha M., Hong, Bo

Journal:

Genes, Chromosomes and Cancer

Année:

2019

Langue:

english

Fichier:

PDF, 2.15 MB

english, 2019

27

Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation

Cessna, Melissa H., Paulraj, Prabakaran, Hilton, Benjamin, Sadre-Bazzaz, Kianoush, Szankasi, Philippe, Cluff, Alice, Patel, Jay L., Hoda, Daanish, Toydemir, Reha M.

Journal:

Cancer Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2019

28

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism

Toydemir, Reha M., Panza, Emanuele, Longhurst, Maria C., South, Sarah T., Rope, Alan F.

Journal:

Molecular Syndromology

Année:

2020

Fichier:

PDF, 529 KB

2020