R. Toydemir

发表

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

M. Bamshad, L. Jorde, J. Carey, 2006, American journal of human genetics.

The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip

B. MacWilliams, D. Viskochil, D. Stevenson, 2015, Journal of pediatric orthopedics.

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

S. South, J. Opitz, John P. Johnson, 2011, American journal of medical genetics. Part A.

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

H. Karabulut, E. Tutar, S. Güleç, 2000, Journal of cardiovascular risk.

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

H. Kearney, G. Raca, L. Conlin, 2020, Archives of pathology & laboratory medicine.

Trismus‐pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

M. Bamshad, L. Jorde, C. Stratakis, 2006, American journal of medical genetics. Part A.

Sheldon-Hall syndrome

M. Bamshad, R. Toydemir, 2009, Orphanet journal of rare diseases.

Histological Transformation and Clonal Relationship of Subcutaneous Marginal Zone B-Cell Lymphoma and Diffuse Large B-Cell Lymphoma

S. Florell, R. Miles, A. Halwani, 2022, The American Journal of dermatopathology.

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

D. Atanackovic, M. Salama, J. Hussong, 2018, Journal of Hematopathology.

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

M. Salama, S. Shetty, L. Rowe, 2010, Cancer genetics and cytogenetics.

GENETIC BASIS OF DISTAL ARTHROGRYPOSES

M. Bamshad, A. Moon, R. Toydemir, 2012 .

L1CAM whole gene deletion in a child with L1 syndrome

D. Stevenson, H. Hanson, E. Baldwin, 2014, American journal of medical genetics. Part A.

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

John C. Herriges, E. Baldwin, A. Lamb, 2018, Journal of child neurology.

Intellectual Disability and Developmental Delay: Cytogenetic Testing

S. South, G. Gu, R. Toydemir, 2016 .

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

L. Botto, E. Panza, A. Openshaw, 2018, American journal of medical genetics. Part A.

Effects of factor V gene G1691A, methylenetetrahydrofolate reductase gene C677T, and prothombin gene G20210A mutations on deep venous thrombogenesis in Behçet's disease.

A. Elhan, A. Gürler, R. Toydemir, 2000, The Journal of rheumatology.

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

P. Bayrak-Toydemir, R. Mao, F. Calderon, 2006, American journal of medical genetics. Part A.

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

M. Accadia, C. Rossi, S. Ferrari, 2023, Frontiers in Genetics.

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

J. Carey, A. Openshaw, R. Toydemir, 2018, Cytogenetic and Genome Research.

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

M. Bamshad, L. Jorde, J. Carey, 2006, Nature Genetics.

FCER2 (Fc fragment of IgE, low affinity II, receptor for (CD23))

M. Salama, Mohamed E. Salama, Reha M. Toydemir, 2012 .

FCER 2 ( Fc fragment of IgE , low affinity II , receptor for ( CD 23 ) )

M. Salama, R. Toydemir, 2012 .

Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia

Najla Al-Sweel, J. Vagher, A. Pomicter, 2022, British journal of haematology.

Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease.

Erica F Andersen, R. Miles, R. Toydemir, 2021, American journal of clinical pathology.

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

Erica F Andersen, J. D. Ozeran, R. Toydemir, 2019, Genes, chromosomes & cancer.

Clinical features of trisomy 12 mosaicism—Report and review

Bo Hong, Janice Zunich, Amanda Openshaw, 2017, American journal of medical genetics. Part A.

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Gabor T. Marth, Thomas J. Nicholas, G. Marth, 2022, Molecular genetics & genomic medicine.

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

M. Bamshad, L. Jorde, Anna-Marie E Brassington, 2003, American journal of human genetics.

Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma.

B. Decker, K. Schafernak, R. Toydemir, 2021, Cancer genetics.

Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation.

P. Szankasi, K. Sadre-Bazzaz, Benjamin A. Hilton, 2019, Cancer genetics.

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

S. South, F. Zhan, S. Perkins, 2015, Leukemia & lymphoma.

A novel AGGF1-PDGFRb fusion in pediatric T-cell acute lymphoblastic leukemia

K. Varley, B. Druker, M. Deininger, 2017, Haematologica.