Doç.Dr. Muhsin ELMAS

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