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Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

Clinical genetics, 2022-09, Vol.102 (3), p.201-217

2022

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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

Human genetics, 2018-09, Vol.137 (9), p.689-703

2018

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Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development

Scientific reports, 2018-02, Vol.8 (1), p.2979-10, Article 2979

2018

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PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Journal of clinical research in pediatric endocrinology, 2023-12, Vol.15 (4), p.338-347

2023

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Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families

European journal of medical genetics, 2017-03, Vol.60 (3), p.163-168

2017

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Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1639-1646

2022

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A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer’s disease

Neurological sciences, 2021-06, Vol.42 (6), p.2497-2504

2021

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Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

Prenatal diagnosis, 2022-11, Vol.42 (12), p.1503-1510

2022

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A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy

Hormone research in paediatrics, 2024, Vol.97 (2), p.157

2024

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Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures

Clinical genetics, 2024-06, Vol.105 (6), p.596-610

2024

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Mutations in different components of FGF signaling in LADD syndrome

Nature genetics, 2006-04, Vol.38 (4), p.414-417

2006

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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Journal of clinical research in pediatric endocrinology, 2022-06, Vol.14 (2), p.153-171

2022

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Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype

Clinical genetics, 2022-04, Vol.101 (4), p.421-428

2022

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Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.498-509

2023

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Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2061-2070

2022

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Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

Frontiers in genetics, 2023-06, Vol.14, p.1191159-1191159

2023

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Different phenotypes of transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) due to a mutation in p.Glu109Gln in members of the same family

Northern Clinics of Istanbul, 2021-01, Vol.8 (4), p.398-401

2021

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Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families

BMC oral health, 2023-05, Vol.23 (1), p.314-314, Article 314

2023

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Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2488-2495

2021

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A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS

Hematology, Transfusion and Cell Therapy, 2021-11, Vol.43, p.S62-S63

2021

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"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports"

BMC medical genetics, 2017-10, Vol.18 (1), p.114-8, Article 114

2017

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Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

Bone (New York, N.Y.), 2022-02, Vol.155, p.116293-116293, Article 116293

2022

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A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family

Oral surgery, oral medicine, oral pathology and oral radiology, 2012-11, Vol.114 (5), p.e42-e46

2012

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Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Molecular cytogenetics, 2018-08, Vol.11 (1), p.45-45, Article 45

2018

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Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families

Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer’s disease

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures

Mutations in different components of FGF signaling in LADD syndrome

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype

Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey

Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

Different phenotypes of transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) due to a mutation in p.Glu109Gln in members of the same family

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports"

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

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