Publications by authors named "Sule Altiner"

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Vitiligo in Xeroderma Pigmentosum: A Protective Phenomenon Against Skin Cancer?
Ahmet Taha Aydemir, Sule Altiner, Bengu Nisa Akay

Photodermatol Photoimmunol Photomed· January 2026

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Coexistence of Mosaic Marker Chromosome and Isodisomy 1 in Reproductive Failure: A Cytogenomic Case Report and Review of the Literature.
Sadiye Ekinci, Ekin Aydın, Şule Altıner

Cytogenet Genome Res· October 2025

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Association between OX40L rs1234314 and rs844648 polymorphisms and unexplained recurrent pregnancy loss.
Elifcan Taşdelen, Nüket Yürür Kutlay, İbrahim Kaplan, Şule Altıner, Mustafa Tarık Alay

Mol Biol Rep· June 2025

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UV-induced fluorescence dermatoscopy in a case of porokeratosis ptychotropica.
Bengu Nisa Akay, Gizem Nur Ozturk, Sule Altiner, Hatice Sanli

J Dtsch Dermatol Ges· April 2025

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A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings.
Mustafa Gökoğlu, Nüket Yürür Kutlay, Şule Altıner

Cytogenet Genome Res· April 2023

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Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
Aslıhan Kiraz, Ozlem Sezer, Adem Alemdar, Sezin Canbek, Nilgun Duman

J Med Virol· February 2023

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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Atil Bisgin, Sebnem Ozemri Sag, Muhammet E Dogan, Mahmut S Yildirim, Aydeniz Aydin Gumus, Sule Altiner

Breast· October 2022

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Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Timur Tuncalı

Am J Med Genet A· June 2022

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Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.
Ceren Damla Durmaz, Şule Altıner, Elifcan Taşdelen, Halil Gürhan Karabulut, Hatice Ilgın Ruhi

Fetal Pediatr Pathol· October 2021

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MASP1-related 3MC syndrome in a patient from Turkey.
Ceren Damla Durmaz, Şule Altıner

Am J Med Genet A· July 2021

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Severe skin fragility with postnatal lethal outcome due to a biallelic KRT5 mutation.
Şule Altıner, Berna Hekimoğlu, Ayten Livaoğlu, Cristina Has

J Dtsch Dermatol Ges· March 2021

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A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis.
Şule Altıner, Lucy Raymond

Fetal Pediatr Pathol· December 2020

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Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of and Deletions.
Alper Han Çebi, Şule Altıner

Mol Syndromol· November 2020

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Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.
Şule Altıner, Nüket Yürür Kutlay, Hatice Ilgın Ruhi

Cytogenet Genome Res· April 2020

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Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia.
Şule Altıner, Senol Ardic, Alper H Çebi

Mol Syndromol· February 2020

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Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature.
Ezgi Gökpınar İli, Şule Altıner, Halil G Karabulut

Cytogenet Genome Res· January 2020

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Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.
Şule Altıner, Nüket Yürür Kutlay

Mol Cytogenet· May 2019

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A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.
Şule Altiner, Halil G Karabulut, Kanay Yararbaş, Ajlan Tükün, Corinne Collet

Clin Dysmorphol· July 2017

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Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.
Şule Altıner, Nüket Y Kutlay, Osman İlhan

Cytogenet Genome Res· January 2017

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Prognostic impact of RUNX1 and ETV6 gene copy number on pediatric B-cell precursor acute lymphoblastic leukemia with or without hyperdiploidy.
Nuket Yurur Kutlay, Esra Pekpak, Sule Altıner, Talia Ileri, Arzu Nedime Vicdan

Int J Hematol· September 2016

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