Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center

Authors: Kocabey, Mehmet, Özkalaycı, Hande, Çankaya, Tufan, Yılmaz Uzman, Ceren, Çağlayan, Ahmet Okay, Ülgenalp, Ayfer, Erçal, Murat Derya

Source: International journal of developmental neuroscience. 83(5):456-465

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189969965.0x000001&indx=1&recIds=ETOCvdc_100189969965.0x000001

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.

Authors: Sönmez, Beria, Kocabey, Mehmet, Polat, Ayşe İpek, Gürsoy, Semra, Karaoğlu, Pakize, Horvath, Rita, Schon, Katherine R., Ülgenalp, Ayfer, Yiş, Uluç, Çağlayan, Ahmet Okay, Giray Bozkaya, Özlem

Source: Molecular Syndromology; 2025, Vol. 16 Issue 1, p61-68, 8p

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation

Authors: Akdal, Gülden, Koçoğlu, Koray, Bora, Elçin, Koç, Altuğ, Ülgenalp, Ayfer, Bedir, Mithat, Ala, Rahmi Tümay, Battaloğlu, Esra, Kırkım, Günay, Şengün, İhsan Şükrü, Halmágyi, Gábor Michael

Source: Neurology.Clinical practice. 11(2):e129-e134

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175125506.0x000001&indx=1&recIds=ETOCvdc_100175125506.0x000001

Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy

Authors: Gursoy, Semra, Ataman, Esra, Baysal, Bahar, Özyılmaz, Berk, Gençpınar, Pınar, Hız, Ayşe, Yiş, Uluç, Ünalp, Aycan, Dündar, Nihal, Ülgenalp, Ayfer, Erçal, Derya

Source: Annals of Indian Academy of Neurology. 23(2):206-210

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114510683.0x000001&indx=1&recIds=ETOCvdc_100114510683.0x000001

A toddler with a novel LEPR mutation

Authors: Armağan, Coşkun, Yılmaz, Ceren, Koç, Altuğ, Abacı, Ayhan, Ülgenalp, Ayfer, Böber, Ece, Erçal, Derya, Demir, Korcan

Source: Hormones. 18(2):237-240

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130045886.0x000001&indx=1&recIds=ETOCvdc_100130045886.0x000001

Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.

Authors: Aslan, Pınar Günay, Çağlayan, Ahmet Okay, Bora, Elçin, Koç, Altuğ, Yucel, Hilal, Ülgenalp, Ayfer, Öztürk, Yeşim, Şeker, Gül, Akarsu, Mesut

Source: Turkish Journal of Gastroenterology; May2024, Vol. 35 Issue 5, p374-384, 12p

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Authors: Sarıkaya Uzan, Gamze, Yılmaz Uzman, Ceren, Çinleti, Tayfun, Günay, Çağatay, Ülgenalp, Ayfer, Hiz Kurul, Semra, Yiş, Uluç

Source: Molecular Syndromology; 2024, Vol. 15 Issue 1, p14-21, 8p

A Novel Splice Site Variant in KLHL40Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

Authors: Sönmez, Beria, Kocabey, Mehmet, Polat, Ayşe İpek, Gürsoy, Semra, Karaoğlu, Pakize, Horvath, Rita, Schon, Katherine R., Ülgenalp, Ayfer, Yiş, Uluç, Çağlayan, Ahmet Okay, Giray Bozkaya, Özlem

Source: Molecular Syndromology; 20240101, Issue: Preprints p1-8, 8p

Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.

Authors: Uzman, Ceren Yılmaz, Çankaya, Tufan, Güleryüz, Handan, Ülgenalp, Ayfer, Bozkaya, Özlem Giray

Source: Skeletal Radiology; Jan2023, Vol. 52 Issue 1, p115-118, 4p

Role of Apolipoprotein E in Febrile Convulsion

Authors: Giray, Özlem, Ülgenalp, Ayfer, Bora, Elçin, Uran, Nedret, Yılmaz, Ebru, Ünalp, Aycan, Erçal, Derya

Source: In Pediatric Neurology 2008 39(4):241-244

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Authors: Sarıkaya Uzan, Gamze, Yılmaz Uzman, Ceren, Çinleti, Tayfun, Günay, Çağatay, Ülgenalp, Ayfer, Hiz Kurul, Semra, Yiş, Uluç

Source: Molecular Syndromology; 20230101, Issue: Preprints p1-8, 8p

Serum motilin levels and motilin gene polymorphisms in children with functional constipation.

Authors: ULUSOY, Emel, ARSLAN, Nur, KÜME, Tuncay, ÜLGENALP, Ayfer, ÇIRALI, Ceren, BOZKAYA, Özlem, ERCAL, Derya

Source: Minerva Pediatrics; Oct2021, Vol. 73 Issue 5, p420-425, 6p

Chromosomal Evaluation Results for Transgender Individuals and Questioning the Necessity of Karyotyping.

Authors: Çankaya, Tufan, Cura, Duygu Onur, Özkalaycı, Hande, Ülgenalp, Ayfer

Source: Erciyes Medical Journal / Erciyes Tip Dergisi; 2021, Vol. 43 Issue 2, p166-169, 4p

Subject Terms: TRANSGENDER people, SEX differentiation disorders, GENDER dysphoria, CHROMOSOMAL rearrangement, GENDER

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.

Authors: KILIÇARSLAN, Özge AKSEL, ATAMAN, Esra, GÜRSOY, Semra, GÜRBÜZ, Gürkan, ÜNALP, Aycan, GENÇPINAR, Pınar, DÜNDAR, Nihal OLGAÇ, EDİZER, Selvinaz, ÜLGENALP, Ayfer, BOZKAYA, Özlem GİRAY

Source: Turkish Journal of Medical Sciences; 2020, Vol. 50 Issue 6, p1573-1579, 7p

Subject Terms: AGENESIS of corpus callosum, ETIOLOGY of diseases, GENETIC mutation, HUMAN abnormalities, DIAGNOSTIC imaging, GENETIC counseling

Electroretinographic findings in Duchenne/Becker muscular dystrophy andcorrelation with genotype.

Authors: Ülgenalp, Ayfer, Öner, Hakan F., Söylev, Meltem F., Bora, Elçin, Afrashi, Filiz, Köse, Süheyla, Erçal, Derya

Source: Ophthalmic Genetics. Sep2002, Vol. 23 Issue 3, p157. 9p.

Subject Terms: *BECKER muscular dystrophy, *DUCHENNE muscular dystrophy, *ELECTRORETINOGRAPHY

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Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.

Authors: AKSEL KILIÇARSLAN, Özge, ATAMAN, Esra, GÜRSOY, Semra, HAZAN, Filiz, RANDA, Cemre, ÇANKAYA, Tufan, ERÇAL, Derya, ÜLGENALP, Ayfer, GİRAY BOZKAYA, Özlem

Source: Turkish Journal of Medical Sciences; 2018, Vol. 48 Issue 5, p911-915, 5p

Subject Terms: CHARGE syndrome, GENETIC disorders, HUMAN abnormalities, AUTOIMMUNE diseases, CHROMOSOME abnormalities

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