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SIBEL KANTARCI, PH.D., FACMG
PH.D., FACMG
Molecular Genetic Pathology (Medical Genetics) Physician
NPI: 1366988834Individual
Specialties, Licenses & Credentials
Molecular Genetic Pathology (Medical Genetics) PhysicianPrimary
Medical Genetics — Molecular Genetic Pathology
Code: 207SM0001X
MTP00000395(CA)
Clinical Cytogenetics Physician
Medical Genetics — Clinical Cytogenetics
Code: 207SC0300X
MTP00000395(CA)
Research & Publications (9)
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
PMID 18553518·Am J Med Genet A·2008
5-case
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
PMID 17632512·Nat Genet·2007
8-other
Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.
PMID 17436295·Am J Med Genet C Semin Med Genet·2007
6-review
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.
PMID 16333846·Am J Med Genet A·2006
5-case
Subclinical mastitis, cell-associated HIV-1 shedding in breast milk, and breast-feeding transmission of HIV-1.
PMID 18043320·J Acquir Immune Defic Syndr·2007
8-other
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
PMID 15696446·Am J Kidney Dis·2005
8-other
Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.
PMID 12210580·Prenat Diagn·2002
8-other
Thrombosis during all-trans-retinoic acid therapy in a child with acute promyelocytic leukemia and factor VQ 506 mutation.
PMID 10734661·Pediatr Hematol Oncol·2000
5-case
A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient.
PMID 10706767·Am J Hematol·2000
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 1010 VETERAN AVENUE, WEST MEDICAL BUILDING, UCLA CLINICAL AND MOLECULAR CYTOGENETICS LABORATORY
LOS ANGELES, CA 90024 - Phone
- (310) 825-4965
Quick Facts
- NPI
- 1366988834
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 9
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