• 5973 Citations
19972022
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1997 2020

  • 5973 Citations
  • 209 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter
9 Citations (Scopus)

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

Falah, N., Posey, J. E., Thorson, W., Benke, P., Tekin, M., Tarshish, B., Lupski, J. R. & Harel, T., Apr 1 2017, In : American Journal of Medical Genetics, Part A. 173, 4, p. 1066-1070 5 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Peripheral Nervous System Diseases
Disorders of Sex Development
Hirschsprung Disease
Poisons
7 Citations (Scopus)

657de15 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family

Tekin, M., Doǧu, F., Taçyildiz, N., Akar, E., Ikincioǧullari, A., Oǧur, G., Yavuz, G., Babacan, E. & Akar, N., Jul 1 2002, In : Clinical Genetics. 62, 1, p. 84-88 5 p.

Research output: Contribution to journalArticle

Nijmegen Breakage Syndrome
Imperforate Anus
Microcephaly
Chromosomal Instability
Mutation
3 Citations (Scopus)

657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population

Tekin, M., Akcayoz, D., Ucar, C., Gulen, H. & Akar, N., Jun 1 2005, In : Human Biology. 77, 3, p. 393-397 5 p.

Research output: Contribution to journalArticle

Nijmegen Breakage Syndrome
breakage
mutation
Mutation
gene

A 15-year-old girl with swelling of the face, legs, breast, and eyes

Sözener, Z. Ç., Tekin, M., Mungan, D. & Karnak, D., Mar 1 2007, In : Pediatric Annals. 36, 3, p. 150-153 4 p.

Research output: Contribution to journalArticle

Eyelashes
Octreotide
Lymphedema
Vasoconstrictor Agents
Pleural Effusion
4 Citations (Scopus)

A 17-month-old with extreme prenatal-onset growth delay

Tekin, M., Ng, J. & Bodurtha, J., Dec 7 2000, In : European Journal of Pediatrics. 159, 12, p. 926-928 3 p.

Research output: Contribution to journalArticle

Osteochondrodysplasias
Dwarfism
Microcephaly
Fetal Growth Retardation
Bone and Bones
24 Citations (Scopus)

A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart

Arnos, K. S., Welch, K. O., Tekin, M., Norris, V. W., Blanton, S. H., Pandya, A. & Nance, W. E., Aug 8 2008, In : American Journal of Human Genetics. 83, 2, p. 200-207 8 p.

Research output: Contribution to journalArticle

Molecular Epidemiology
Deafness
Pedigree
Marriage
Sign Language
27 Citations (Scopus)

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

Tekin, M., Sirmaci, A., Yüksel-Konuk, B., Fitoz, S. & Sennaroǧlu, L., Mar 1 2009, In : American Journal of Medical Genetics, Part A. 149, 3, p. 427-430 4 p.

Research output: Contribution to journalArticle

Branchio-Oto-Renal Syndrome
Inner Ear
Alleles
Deafness
Amino Acids

Adams–Oliver syndrome caused by mutations of the EOGT gene

Schröder, K. C., Duman, D., Tekin, M., Schanze, D., Sukalo, M., Meester, J., Wuyts, W. & Zenker, M., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2246-2251 6 p.

Research output: Contribution to journalArticle

Ectodermal Dysplasia
Mutation
Genes
Extremities
Inheritance Patterns
1 Citation (Scopus)

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure

Hung, C. Y., Volkmar, B., Baker, J., Bauer, J. W., Gussoni, E., Hainzl, S., Klausegger, A., Lorenzo, J., Mihalek, I., Rittinger, O., Tekin, M., Dallman, J. & Bodamer, O. A., Jan 1 2017, In : PLoS One. 12, 12, p. e0189324

Research output: Contribution to journalArticle

Kinetochores
kinetochores
Defects
Growth
Cell Division
105 Citations (Scopus)

Advances in hereditary deafness

Tekin, M., Arnos, K. S. & Pandya, A., Sep 29 2001, In : Lancet. 358, 9287, p. 1082-1090 9 p.

Research output: Contribution to journalArticle

Deafness
Genes
Human Genome Project
Cochlea
Gene Library
17 Citations (Scopus)

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

Ramsebner, R., Ludwig, M., Parzefall, T., Lucas, T., Baumgartner, W. D., Bodamer, O., Cengiz, F. B., Schoefer, C., Tekin, M. & Frei, K., Feb 1 2010, In : Laryngoscope. 120, 2, p. 359-364 6 p.

Research output: Contribution to journalArticle

Fibroblast Growth Factor 3
Inner Ear
Mutation
External Ear
Tomography
10 Citations (Scopus)

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

Sirmaci, A., Öztürkmen-Akay, H., Erbek, S., Incesulu, A., Duman, D., Taşir-Yilmaz, S., Özdaǧ, H. & Tekin, M., Jun 11 2009, In : Clinical Genetics. 75, 6, p. 562-567 6 p.

Research output: Contribution to journalArticle

Hearing Loss
Mutation
Sensorineural Hearing Loss
Deafness
Heterozygote
8 Citations (Scopus)

A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus

Tekin, M., Hişmi, B. Ö., Fitoz, S., Yalçinkaya, F., Ekim, M., Kansu, A., Ertem, M., Deda, G., Tutar, E., Arsan, S., Zhou, X. P., Pilarski, R., Eng, C. & Akar, N., Jul 1 2006, In : American Journal of Medical Genetics, Part A. 140, 13, p. 1472-1475 4 p.

Research output: Contribution to journalArticle

Sebaceous of Jadassohn Nevus
PTEN Phosphohydrolase
Germ-Line Mutation
Nevus
Skin Neoplasms
8 Citations (Scopus)

A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

Yariz, K. O., Sakalar, Y. B., Jin, X., Hertz, J., Sener, E. F., Akay, H., Özbek, M. N., Farooq, A., Goldberg, J. & Tekin, M., Jan 1 2015, In : Clinical Genetics. 87, 2, p. 192-195 4 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Alterations in the GJB3 and CLDN14 genes in families with nonsyndromic sensorineural hearing loss [2]

Arican, S. T., Incesulu, A., Inceoglu, B. & Tekin, M., Oct 31 2005, In : Genetic Counseling. 16, 3, p. 309-311 3 p.

Research output: Contribution to journalArticle

Connexins
Sensorineural Hearing Loss
Gene Deletion
Preschool Children
Pedigree
120 Citations (Scopus)

Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., Anwar, S., Andrade-Elizondo, P. B., Sirmaci, A., Parise, L. V., Basit, S., Wali, A., Ayub, M., Ansar, M. & 11 others, Ahmad, W., Khan, S. N., Akram, J., Tekin, M., Riazuddin, S., Cook, T., Buschbeck, E. K., Frolenkov, G. I., Leal, S. M., Friedman, T. B. & Ahmed, Z. M., Nov 1 2012, In : Nature Genetics. 44, 11, p. 1265-1271 7 p.

Research output: Contribution to journalArticle

Usher Syndromes
Calcium-Binding Proteins
Integrins
Deafness
Mutation
4 Citations (Scopus)

A Mayan founder mutation is a common cause of deafness in Guatemala

Carranza, C., Menendez, I., Herrera, M., Castellanos, P., Amado, C., Maldonado, F., Rosales, L., Escobar, N., Guerra, M., Alvarez, D., Foster, J., Guo, S., Blanton, S. H., Bademci, G. & Tekin, M., Apr 1 2016, In : Clinical Genetics. 89, 4, p. 461-465 5 p.

Research output: Contribution to journalArticle

Guatemala
Deafness
Mutation
Population
Hearing Loss
2 Citations (Scopus)

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia

Lord, S. V., Jimenez, J. E., Kroeger, Z. A., Patrick, C. S., Sanchez-Pena, I., Ziga, E., Bademci, G. & Tekin, M., Jan 1 2018, In : Clinical Dysmorphology. 27, 1, p. 9-11 3 p.

Research output: Contribution to journalArticle

Thrombocytopenia
African Americans
Pronation
Supination
Transplants

Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations

Foster, J. & Tekin, M., Oct 20 2015, (Accepted/In press) In : Egyptian Journal of Medical Human Genetics.

Research output: Contribution to journalArticle

Aminoglycosides
Mitochondrial DNA
Hearing Loss
Mutation
Audiometry
10 Citations (Scopus)

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

Ben Said, M., Grati, M., Ishimoto, T., Zou, B., Chakchouk, I., Ma, Q., Yao, Q., Hammami, B., Yan, D., Mittal, R., Nakamichi, N., Ghorbel, A., Neng, L., Tekin, M., Shi, X. R., Kato, Y., Masmoudi, S., Lu, Z., Hmani, M. & Liu, X. Z., May 1 2016, In : Human Genetics. 135, 5, p. 513-524 12 p.

Research output: Contribution to journalArticle

Cochlea
Hearing Loss
Endothelium
Cations
Mutation
18 Citations (Scopus)

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients

Özçakar, Z. B., Cengiz, F. B., Çakar, N., Uncu, N., Kara, N., Acar, B., Yüksel, S., Ekim, M., Tekin, M. & Yalçinkaya, F., Aug 1 2006, In : Pediatric Nephrology. 21, 8, p. 1093-1096 4 p.

Research output: Contribution to journalArticle

Nephrotic Syndrome
Steroids
Mutation
Turkey
Genes
15 Citations (Scopus)

An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability

Falcone, M., Yariz, K. O., Ross, D. B., Foster, J., Menendez, I. & Tekin, M., Dec 6 2013, In : PLoS One. 8, 12, e82810.

Research output: Contribution to journalArticle

amino acid deletion
seizures
Chromosomes
Intellectual Disability
Tissue
20 Citations (Scopus)

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Tekin, D., Yan, D., Bademci, G., Feng, Y., Guo, S., Foster, J., Blanton, S. H., Tekin, M. & Liu, X. Z., Mar 1 2016, In : Hearing Research. 333, p. 179-184 6 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Genes
Exons
Databases

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

Voronova, A., Gallagher, D., Zander, M., Cancino, G., Bramall, A., Krause, M. P., Abad, C., Tekin, M., Neilsen, P. M., Callen, D. F., Scherer, S. W., Keller, G. M., Kaplan, D. R., Walz, K. & Miller, F. D., Dec 1 2015, In : SpringerPlus. 4, p. 1-32 32 p., L28.

Research output: Contribution to journalArticle

51 Citations (Scopus)

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

Gallagher, D., Voronova, A., Zander, M. A., Cancino, G. I., Bramall, A., Krause, M. P., Abad, C., Tekin, M., Neilsen, P. M., Callen, D. F., Scherer, S. W., Keller, G. M., Kaplan, D. R., Walz, K. & Miller, F. D., Jan 1 2015, In : Developmental Cell. 32, 1, p. 31-42 12 p.

Research output: Contribution to journalArticle

Acetylation
Autistic Disorder
Histones
Chromatin
Histone Acetyltransferases
6 Citations (Scopus)

A note on mutation analysis in familial Mediterranean fever [1]

Akar, N., Akar, E., Özel, D., Tekin, M., Ekim, M. & Yalçinkaya, F., Feb 1 2003, In : Pediatric Nephrology. 18, 2, p. 196-197 2 p.

Research output: Contribution to journalArticle

DNA Mutational Analysis
Familial Mediterranean Fever
Amyloidosis
Molecular Biology
Mutation
6 Citations (Scopus)

A novel COL4A3 mutation causes autosomal-recessive alport syndrome in a large Turkish family

Uzak, A. S., Tokgoz, B., Dundar, M. & Tekin, M., Mar 1 2013, In : Genetic Testing and Molecular Biomarkers. 17, 3, p. 260-264 5 p.

Research output: Contribution to journalArticle

Hereditary Nephritis
Mutation
Exons
Eye Abnormalities
Collagen Type IV
42 Citations (Scopus)

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

Tekin, M., Akcayoz, D. & Incesulu, A., Sep 15 2005, In : American Journal of Medical Genetics. 138 A, 1, p. 6-10 5 p.

Research output: Contribution to journalArticle

Missense Mutation
Mutation
Parents
Pure-Tone Audiometry
Brain Stem Auditory Evoked Potentials
7 Citations (Scopus)

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Doǧanci, T., Yüksel Konuk, B. E., Alpan, N., Konuk, O., Hämäläinen, R. H., Lehesjoki, A. E. & Tekin, M., Jul 1 2007, In : Clinical Dysmorphology. 16, 3, p. 173-176 4 p.

Research output: Contribution to journalArticle

Mulibrey Nanism
Mutation
Nonsense Codon
Finland
Constriction

A novel variant in SYNE4 confirms its causative role in sensorineural hearing loss

Masterson, J., Yıldırım, B., Gökkaya, E., Yılmaz, S. T. & Tekin, M., Jan 1 2018, In : Balkan Medical Journal. 35, 2, p. 196-198 3 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Hearing Loss
High-Frequency Hearing Loss
DNA
Genes
15 Citations (Scopus)

Antistreptococcal response is exaggerated in children with familial Mediterranean fever

Yalçinkaya, F., Ince, E., Uçar, T., Özkaya, N., Tekin, M., Elhan, A. H., Tutar, E., Güriz, D. H., Aysev, D., Gökdemir, R., Doǧru, Ü. & Tümer, N., Sep 1 2002, In : Clinical Rheumatology. 21, 5, p. 378-381 4 p.

Research output: Contribution to journalArticle

Familial Mediterranean Fever
Antistreptolysin
Rheumatic Fever
Antibodies
Pharyngitis
1 Citation (Scopus)

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

Lopategui, D. M., Griswold, A., Arora, H., Clavijo, R. I., Tekin, M. & Ramasamy, R., Jan 1 2018, In : Andrology. 6, 1, p. 53-57 5 p.

Research output: Contribution to journalArticle

Kallmann Syndrome
Exome
Siblings
Delayed Puberty
Olfaction Disorders
2 Citations (Scopus)

Arnavut popülasyonunda FV G1691A ve PT G20210A mutasyonu si{dotless}kli{dotless}ǧi{dotless}

Translated title of the contribution: The frequency of FV G1691A and PT G20210A mutations in an albanian populationAvni Atay, A., Tekin, M., Allajalebeu, K., Eǧin, Y. & Akar, N., Aug 30 2011, In : Turkish Journal of Hematology. 28, 3, p. 241-242 2 p.

Research output: Contribution to journalArticle

Mutation
Population
37 Citations (Scopus)

Arthritis in children with familial mediterranean fever

Ïnce, E., Çakar, N., Tekin, M., Kendirli, T., Özkaya, N., Akar, N. & YalçInkaya, F., Apr 27 2002, In : Rheumatology International. 21, 6, p. 213-217 5 p.

Research output: Contribution to journalArticle

Familial Mediterranean Fever
Arthritis
Mutation
Sternoclavicular Joint
Foot Joints
6 Citations (Scopus)

Assessment of ventricular repolarization in a large group of children with early onset deafness

Tutar, E., Tekin, M., Uçar, T., Çomak, E., Öcal, B. & Atalay, S., Sep 1 2004, In : PACE - Pacing and Clinical Electrophysiology. 27, 9, p. 1217-1220 4 p.

Research output: Contribution to journalArticle

Deafness
Hearing
Heart Rate
Syncope
Jervell-Lange Nielsen Syndrome
4 Citations (Scopus)

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: Clinical and genetic spectrum of five families

Subasioglu Uzak, A., Cakar, N., Comak, E., Yalcinkaya, F. & Tekin, M., Oct 1 2013, In : Renal Failure. 35, 9, p. 1281-1284 4 p.

Research output: Contribution to journalArticle

Renal Tubular Acidosis
Sensorineural Hearing Loss
Mutation
Genetic Association Studies
Turkey
2 Citations (Scopus)

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Sineni, C. J., Yildirim-Baylan, M., Guo, S., Camarena, V., Wang, G., Tokgoz-Yilmaz, S., Duman, D., Bademci, G. & Tekin, M., Jan 1 2019, In : Human Genetics.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Hearing
Tight Junction Proteins
Tight Junctions
Deafness
20 Citations (Scopus)

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

Yariz, K. O., Walsh, T., Akay, H., Duman, D., Akkaynak, A. C., King, M. C. & Tekin, M., Mar 1 2012, In : Clinical Genetics. 81, 3, p. 289-293 5 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Mutation
Phenotype
32 Citations (Scopus)

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgöz-Yilmaz, S., Hişmi, B., Özdaǧ, H., Öztürk, B., Kulaksizoǧlu, S., Yildirim, E., Kokotas, H., Grigoriadou, M., Petersen, M. B., Shahin, H., Kanaan, M., King, M. C., Chen, Z. Y. & 5 others, Blanton, S. H., Liu, X. Z., Zuchner, S. L., Akar, N. & Tekin, M., May 14 2010, In : American Journal of Human Genetics. 86, 5, p. 797-804 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Deafness
Inner Ear
Inner Auditory Hair Cells
Mutation

Audiological findings in Noonan syndrome

Tokgoz-Yilmaz, S., Turkyilmaz, M. D., Cengiz, F. B., Sjöstrand, A. P., Kose, S. K. & Tekin, M., Oct 1 2016, In : International Journal of Pediatric Otorhinolaryngology. 89, p. 50-54 5 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Brain Stem Auditory Evoked Potentials
Hearing
Ear
Speech Audiometry
5 Citations (Scopus)

Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2

Tokgöz-Yilmaz, S., Şahli, S., Fitoz, S., Sennaroĝlu, G. & Tekin, M., Mar 1 2011, In : International Journal of Pediatric Otorhinolaryngology. 75, 3, p. 433-437 5 p.

Research output: Contribution to journalArticle

Hearing
Hearing Loss
Mutation
Communication
Parturition

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

Fan, K. C., Patel, N. A., Yannuzzi, N. A., Prakhunhungsit, S., Negron, C. I., Basora, E., Colin, A. A., Tekin, M. & Berrocal, A. M., Sep 1 2019, In : American Journal of Ophthalmology Case Reports. 15, 100486.

Research output: Contribution to journalArticle

Open Access
Hypotrichosis
Kartagener Syndrome
Macular Degeneration
Mutation
Vertebrate Photoreceptor Cells

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent

Latchman, K., Calder, M., Morel, D., Rhodes, L., Juusola, J. & Tekin, M., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Intellectual Disability
Siblings
Blepharoptosis
Failure to Thrive
Sensorineural Hearing Loss
69 Citations (Scopus)

Autosomal recessive nonsyndromic deafness genes: A review

Duman, D. & Tekin, M., Jun 1 2012, In : Frontiers in Bioscience. 17, 6, p. 2213-2236 24 p.

Research output: Contribution to journalArticle

Audition
Genes
Mutation
Hearing Loss
Deafness

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

Orenay-Boyacioglu, S., Tekin, M. & Dundar, M., Nov 1 2015, In : Annals of Saudi Medicine. 35, 6, p. 462-467 6 p.

Research output: Contribution to journalArticle

Siblings
Chromosomes, Human, Pair 14
Arachnodactyly
Genes
Phenotype
17 Citations (Scopus)

Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with Noonan syndrome

Uçar, T., Atalay, S., Tekin, M. & Tutar, E., Dec 1 2005, In : Pediatric Cardiology. 26, 6, p. 848-850 3 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Pulmonary Valve Stenosis
Cardiovascular Abnormalities
Dilatation
Coronary Vessels
3 Citations (Scopus)

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation

Güneş, N., Cengiz, F. B., Duman, D., Dervişoǧlu, S., Tekin, M. & Tüysüz, B., Jan 1 2014, In : Genetic Counseling. 25, 1, p. 41-47 7 p.

Research output: Contribution to journalArticle

Branchio-Oto-Renal Syndrome
Newborn Infant
Lip
Skin
Mutation
6 Citations (Scopus)

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

Wesdorp, M., van de Kamp, J. M., Hensen, E. F., Schraders, M., Oostrik, J., Yntema, H. G., Feenstra, I., Admiraal, R. J. C., Kunst, H. P. M., Tekin, M., Kanaan, M., Kremer, H. & Pennings, R. J. E., May 30 2016, (Accepted/In press) In : Hearing Research.

Research output: Contribution to journalArticle

Hearing Loss
Phenotype
Mutation
Protein Isoforms
Stereocilia
32 Citations (Scopus)

Café au lait spots: The pediatrician's perspective

Tekin, M., Bodurtha, J. N. & Riccardi, V. M., Dec 1 2001, In : Pediatrics in Review. 22, 3, p. 82-90 9 p.

Research output: Contribution to journalArticle

Pigmentation Disorders
Cafe-au-Lait Spots
Neurofibromatosis 2
Fanconi Anemia
Tuberous Sclerosis
17 Citations (Scopus)

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

Erken, H., Yariz, K. O., Duman, D., Kaya, C. T., Sayin, T., Heper, A. O. & Tekin, M., Oct 1 2011, In : British Journal of Dermatology. 165, 4, p. 917-921 5 p.

Research output: Contribution to journalArticle

Palmoplantar Keratoderma
Alopecia
Cardiomyopathies
Mutation
gamma Catenin