An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion

Nurten Kara, Gülsen Ökten, Sezgin Güneş, +2

Epilepsy Research

Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching

Francesco Fiorentino, Semra Kahraman, H. Karadayi, +6

European Journal of Human Genetics

HistocompatibilityHlaHuman Leukocyte AntigenPreimplantation Hla MatchingGenetics +8

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

Hakan Cangül, Kristien Boelaert, Murat Doğan, +4

Endocrine

Thyroglobulin Gene MutationsGenetic DisorderGeneticsThyroid DiseaseThyroid Disorders +4

Genetic Diagnosis in Infertile Men with Numerical and Constitutional Sperm Abnormalities

Cenk Murat Yazıcı, Şebnem Ergünsu, Ç. Beyazyürek, +4

Genetic Testing

Genetic TestingConstitutional Sperm AbnormalitiesFertilityGeneticsReproductive Health +20

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects

Hakan Cangül, Veysel Nijat Baş, Yaman Sağlam, +4

Journal of Pediatric Endocrinology and Metabolism

Heart DefectsDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +11

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

Hakan Cangül, Zehra Aycan, Michaela Kendall, +4

Journal of Pediatric Endocrinology and Metabolism

Mendelian DisorderPotential LinkageGenetic DisorderGeneticsThyroid Disease +11

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism

Hakan Cangül, Murat Doğan, Yaman Sağlam, +4

Journal of Clinical Research in Pediatric Endocrinology

The Mayer–Rokitansky–Kuster–Hauser and gonadal dysgenesis anomaly in a girl with 45,X/46,X,del(X)(p11.21)

Ayla Güven, Nurten Kara, Yaman Sağlam, +2

American Journal of Medical Genetics Part A

SpermatogenesisDevelopmental AnomalyDevelopmental BiologyGenetic DisorderGenetics +8

Preimplantation genetic diagnosis (PGD) for extremes—successful birth after PGD for a consanguineous couple carrying an identical balanced reciprocal translocation

Ç. Beyazyürek, Cumhur Gökhan Ekmekçi, Yaman Sağlam, +1

Fertility and Sterility

Genetic TestingFertilityPrenatal Genetic TestingGeneticsPrenatal Genetic Screening +12

A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism

Hakan Cangül, Nadia Schoenmakers, Halil Sağlam, +7

Journal of Pediatric Endocrinology and Metabolism

Developmental BiologyGenetic DisorderGeneticsThyroid DysgenesisThyroid Disease +13