საიტის ძებნა

Doç.Dr. Muhsin ELMAS

სამედიცინო გენეტიკა

ბაჯილარი მედიპოლის მეგას უნივერსიტეტის საავადმყოფო
დაბადების ადგილი

ÇAY

უცხო ენები

İNGİLİZCE

2014 - 2023Afyonkarahisar Sağlık Bilimleri Üniversitesi Tıbbi Genetik Ana Bilim Dalı
2014Afyon Kocatepe Üniversitesi Tıp Fakültesi, Tıbbi Genetik
2013Eskişehir Osmangazi Üniversitesi Tıp Fakültesi, Tıbbi Genetik
2011İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi, Tıbbi Genetik
2008Afyon Kocatepe Üniversitesi, Tıp Fakültesi
Eserler:
1 - Duman N, Elmas M “Dermoscopy of cutaneous neurofibromas associated with neurofibromatosis type 1” Research Journal of the American Acedemy of Dermatology Journal of the American Academy of Dermatology 73 (3), 529-531
2- Nuri K, Elmas M, Erginoğlu E, Yeşil M, A rare case of 3C - disease: “Ritscher – Schinzel syndrome presenting with recurrent talipes equinovarus “(Mehmet Nuri Konya, Elmas M, Sadık Emre Erginoğlu, Murat Yeşil) İnternational Journal of Surgery Case Reports 18 August 2014
3- Onrat S, Söylemez Z, Elmas M “46,XX, der(15), t(Y;15)(q12;p11) karyotype in an azoospermic male” indian J.Human Genetic may 2012
4- Nuri K, Elmas M, Erten A, A Rare Condition Presented with Small Hand: Silver Russell Syndrome [SRS] Case Report and Brief Literature Review. J Clinic Res Bioeth 6: 224. doi:10.4172/2155-9627.1000224
5- R Duman, N Duman, M Elmas, GF Yavas, First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis? Clinical dysmorphology, 2016
6- Elmas M, Pektaş A, Solak M Evaluation of Pediatric Patients with Dysmorphology with respect to Echocardiography Findings: A Single Center Experience
Egyptian Journal of Medical Human Genetics Egyptian Journal of Medical Human Genetics
7- M Beker-Acay, M Elmas, R Koken, E Unlu, A Bukulmez Infantile type Sandhoff disease with striking brain MRI findings and a novel mutation Polish journal of radiology 81, 86
8- TA Ali, K Afra, BE Didem, E Muhsin Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome Journal of Indian Association of Pediatric Surgeons 21 (4), 193
9- Elmas M, Gogus B, Bukulmez A, Solak M TBCD Geninde Yeni Bir Mutasyon Tespit Edilen PEBAT Sendomlu Olgu (A Case Of PEBAT Syndrome With A Novel Mutation In TBCD Gene) Kocatepe Tıp Dergisi (Kabul edildi, henüz basılmadı)
10- Elmas M, Gogus B “ A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene” Journal of Biochemical and Clinical Genetics and its final volume/issue numbers were assigned as 2018, 1(2): 81-83"
11- Elmas M, Gogus B, Oflu AT, Bukulmez A, Elmas E, Solak M Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene." Journal of Biochemical and Clinical Genetics
12- Konya NM, Elmas M, Özdemir Ç “Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses. “ Eklem hastaliklari ve cerrahisi= Joint diseases & related surgery 28 sayı: 2
13- B Değirmenci, M Solak, SH Yildiz, MO Erdogan, M Elmas, T Fistik “Evaluation of cytogenetic and y chromosome microdeletion analyzes in infertile cases “ Meta Genet 2018/11/7
14- M Elmas, H Yıldız, M Erdoğan, B Gogus, K Avcı, M Solak Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience Molecular biology reports, 1-13
15- M.Elmas, B Gogus, D Cavusoglu, A Pektas, M Solak '"Congenital Muscular Dystrophy a case study with a mutation in the POMT1 gene" Journal of Biochemical and Clinical Genetics (Accepted, but not published)
16- M Elmas, B Gogus, AT Oflu, A Bukulmez, E Elmas, M Solak Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.
17- M Elmas, A Gundogdu, I Sahbaz, C Kocoglu, T Kalkan, H Toktas Genetic and clinical analysis of spinocerebellar ataxia type 36 in a Turkish Family with review of literatüre
18- Ilhan A Bayhan, Aysegul Bursali, M Elmas, Zafer Yuksel, Ozturk Ozdemir, Fatma Silan, Onur Yildiz, Osman Yesilbas, Sedat IsikayThe genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance
19- M Elmas, B Gogus Success of face analysis technology in rare genetic diseases diagnosed by whole-exome sequencing: a single-center experience Molecular Syndromology 11 (1), 4-14
20- A Dumanlı, M Elmas Current Thoracic Surgery 5 (1), 10-15Investigation of clinical and genetic data of pectus excavatum in dysmorphological children: a single-center experience
21- M Elmas, B Göğüş, B Topçuoğlu, S Sav, H Heybeli, A Yılmaz, B Koçak Kocaeli Üniversitesi “Spor eğitimi alan kişilerin eklem hipermobilitesi, yaşam kalitesi ve sosyodemografik verilerinin araştırılması: prospektif randomize kontrollü çalışma
22- S Tutgun Onrat, M Elmas, H Demirbaş SPRINGERNATURE An interesting case: 30-year-old male patient with myotonic dystrophy typeI has got normal CTG repeats sequence in the DMPK gene, but it does not comply with its clinical features
23- M Elmas, UC Yildirim, D Cavusoglu, EG Tahta, E Elmas, TA Sen, Journal of Biochemical and Clinical Genetics 3 (1), 41-41Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5
24- M Elmas, M Solak, M Yaman, SH Yildiz, M Erdogan, T Koken Journal of Biochemical and Clinical Genetics 3 (1), 3-3Association of vitamin D level and CYP27B1 gene polymorphism with multiple sclerosis in Turkish population
25- M Elmas, B Gogus, M Solak Clinical Medicine Insights: Case Reports 1179547620948666 Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review
26- M Elmas, UC Yildirim Journal of Biochemical and Clinical Genetics 3 (2), 54-54Genetic and clinical approach to macrocephaly: a 5-year single-center study
27- M Elmas, UC Yildirim Journal of Pediatric GeneticsGenetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience
28- M Elmas, B Gogus, B Değirmenci, M Solak, JG Gleeson Egyptian Journal of Medical Human Genetics 21 (1), 1-5A case of spastic paraplegia type 11 with a variation in the SPG11 gene
29- ST Onrat, M Elmas, K Avci Biomedical Journal of Scientific & Technical Research 36 (1), 28129-28132A Rare De Novo Robertsonian Translocation 45, XX, rob (13; 13)(q10; q10) Karyotype Carrying in a Normal Woman; But Recurrent Abortions
30- M ELMAS Kocatepe Tıp Dergisi 22 (4), 272-277 DOWN SENDROMLU OLGULARDA PRENATAL BULGULAR
31- S Tutgun Onrat, M Elmas, ÜC Yıldırım, H Demirbas Türkiye Klinikleri Miyotonik Distrofi Hastalarının CTG Tekrar Sayıları ile Genotip ve Klinik Bulguların Değerlendirilmesi: Tek Merkez Deneyimi-Olgu Serisi
32- E Elmas, A Bükülmez, M Elmas, G Demircin Kocatepe Tıp Dergisi Afyonkarahisar Bölgesinde Ailesel Akdeniz Ateşli Çocukların Demografik, Klinik, Laboratuvar Ve Genetik Özelliklerinin Değerlendirilmesi
33- M Elmas, B Gogus, F Kılıçarslan, A Bukulmez, M Solak Journal of Pediatric Genetics 10 (01), 074-076 Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
34- ST Onrap, M Elmas, ÜC Yildirim, H Demırbaş Türkiye Klinikleri. Tip Bilimleri Dergisi 41 (3), 298-304 Miyotonik Distrofi Hastalarının CTG Tekrar Sayıları ile Genotip ve Klinik Bulguların Değerlendirilmesi: Tek Merkez Deneyimi-Olgu Serisi
35- A Vural, G Şimşir, Ş Tekgül, C Koçoğlu, F Akcimen, E Kartal, M.Elmas Movement Disorders 36 (7), 1676-1688 The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice
36- T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, M Elmas The American Journal of Human Genetics 108 (10), 1981-2005 High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
37- S Tutgun Onrat, M Elmas AJCRMH A Rare De Novo Reciprocal Translocation 46, XX, rec (7; 13)(p22; q32) Karyotype
38- Muhsin E, G Basak, D Banu, G Alper, S Mustafa Journal of Molecular Neuroscience 72 (1), 149-157 Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience
39- M Elmas, B Gögus The European Research Journal 8 (2), 145-154 The road from mutation to next generation phenotyping: contribution of deep learning technology (Face2Gene) to diagnosis neurofibromatosis type 1
40- B Göğüş, M Elmas SPRINGERNATURE A family with mutation in DMD that inherited from gonadal mosaic mother
41- M Dundar, U Fahrioglu, SH Yildiz, B Bakir-Gungor, SG Temel, Elmas M Functional & Integrative Genomics, 1-25 Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
42- B Gogus, M Elmas EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 314-314 A family with mutation in DMD that inherited from gonadal mosaic mother
43- D Cavusoglu, M Kose, E Er, M Elmas, P Gencpinar, NO Dundar, K Aydin Brain and Development A female case of 5, 10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities