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Mustafa Tekin

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Turkey

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Publications

TOP 3
Sirmaci A; Oztürkmen-Akay H; Erbek S; Incesulu A; Duman D; Tasir-Yilmaz S; Ozdag H; Tekin M
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
Hucthagowder Vishwanathan; Morava Eva; Kornak Uwe; Lefeber Dirk J; Fischer Björn; Dimopoulou Aikaterini; Aldinger Annika; Choi Jiwon; Davis Elaine C; Abuelo Dianne N; Adamowicz Maciej; Al-Aama Jumana; Basel-Vanagaite Lina; Fernandez Bridget; Greally Marie T; Gillessen-Kaesbach Gabriele; Kayserili Hulya; Lemyre Emmanuelle; Tekin Mustafa; Türkmen Seval; Tuysuz Beyhan; Yüksel-Konuk Berrin; Mundlos Stefan; Van Maldergem Lionel; Wevers Ron A; Urban Zsolt
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Sirmaci Asli; Duman Duygu; Oztürkmen-Akay Hatice; Erbek Seyra; Incesulu Armagan; Oztürk-Hismi Burcu; Arici Z Serap; Yüksel-Konuk E Berrin; Tasir-Yilmaz Seda; Tokgöz-Yilmaz Suna; Cengiz Filiz Basak; Aslan Idil; Yildirim Müzeyyen; Hasanefendioglu-Bayrak Aylin; Ayçiçek Abdullah; Yilmaz Ismail; Fitoz Suat; Altin Fazilet; Ozdag Hilal; Tekin Mustafa
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

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All Publications

2009: Sirmaci A; Oztürkmen-Akay H; Erbek S; Incesulu A; Duman D; Tasir-Yilmaz S; Ozdag H; Tekin M
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
Clinical genetics 2009;75(6):562-7.
2009: Hucthagowder Vishwanathan; Morava Eva; Kornak Uwe; Lefeber Dirk J; Fischer Björn; Dimopoulou Aikaterini; Aldinger Annika; Choi Jiwon; Davis Elaine C; Abuelo Dianne N; Adamowicz Maciej; Al-Aama Jumana; Basel-Vanagaite Lina; Fernandez Bridget; Greally Marie T; Gillessen-Kaesbach Gabriele; Kayserili Hulya; Lemyre Emmanuelle; Tekin Mustafa; Türkmen Seval; Tuysuz Beyhan; Yüksel-Konuk Berrin; Mundlos Stefan; Van Maldergem Lionel; Wevers Ron A; Urban Zsolt
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Human molecular genetics 2009;18(12):2149-65.
2009: Sirmaci Asli; Duman Duygu; Oztürkmen-Akay Hatice; Erbek Seyra; Incesulu Armagan; Oztürk-Hismi Burcu; Arici Z Serap; Yüksel-Konuk E Berrin; Tasir-Yilmaz Seda; Tokgöz-Yilmaz Suna; Cengiz Filiz Basak; Aslan Idil; Yildirim Müzeyyen; Hasanefendioglu-Bayrak Aylin; Ayçiçek Abdullah; Yilmaz Ismail; Fitoz Suat; Altin Fazilet; Ozdag Hilal; Tekin Mustafa
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
International journal of pediatric otorhinolaryngology 2009;73(5):699-705.
2009: Hilgert Nele; Huentelman Matthew J; Thorburn Ashley Q; Fransen Erik; Dieltjens Nele; Mueller-Malesinska Malgorzata; Pollak Agnieszka; Skorka Agata; Waligora Jaroslaw; Ploski Rafal; Castorina Pierangela; Primignani Paola; Ambrosetti Umberto; Murgia Alessandra; Orzan Eva; Pandya Arti; Arnos Kathleen; Norris Virginia; Seeman Pavel; Janousek Petr; Feldmann Delphine; Marlin Sandrine; Denoyelle Françoise; Nishimura Carla J; Janecke Andreas; Nekahm-Heis Doris; Martini Alessandro; Mennucci Elena; Tóth Timea; Sziklai Istvan; Del Castillo Ignacio; Moreno Felipe; Petersen Michael B; Iliadou Vasiliki; Tekin Mustafa; Incesulu Armagan; Nowakowska Ewa; Bal Jerzy; Van de Heyning Paul; Roux Anne-Françoise; Blanchet Catherine; Goizet Cyril; Lancelot Guenaëlle; Fialho Graça; Caria Helena; Liu Xue Zhong; Xiaomei Ouyang; Govaerts Paul; Grønskov Karen; Hostmark Karianne; Frei Klemens; Dhooge Ingeborg; Vlaeminck Stephen; Kunstmann Erdmute; Van Laer Lut; Smith Richard J H; Van Camp Guy
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
European journal of human genetics : EJHG 2009;17(4):517-24.
2009: Tekin Mustafa; Sirmaci Asli; Yüksel-Konuk Berrin; Fitoz Suat; Sennaroglu Levent
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.
American journal of medical genetics. Part A 2009;149A(3):427-30.
2008: Kim Hyung-Goo; Kurth Ingo; Lan Fei; Meliciani Irene; Wenzel Wolfgang; Eom Soo Hyun; Kang Gil Bu; Rosenberger Georg; Tekin Mustafa; Ozata Metin; Bick David P; Sherins Richard J; Walker Steven L; Shi Yang; Gusella James F; Layman Lawrence C
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
American journal of human genetics 2008;83(4):511-9.
2008: Arnos Kathleen S; Welch Katherine O; Tekin Mustafa; Norris Virginia W; Blanton Susan H; Pandya Arti; Nance Walter E
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.
American journal of human genetics 2008;83(2):200-7.
2008: Tekin M; Oztürkmen Akay H; Fitoz S; Birnbaum S; Cengiz F B; Sennaroglu L; Incesulu A; Yüksel Konuk E B; Hasanefendioglu Bayrak A; Sentürk S; Cebeci I; Utine G E; Tunçbilek E; Nance W E; Duman D
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.
Clinical genetics 2008;73(6):554-65.
2008: Ergür Ayça T; Ocal Gönül; Berberoglu Merih; Tekin Mustafa; Kiliç Birim G; Aycan Zehra; Kutlu Alev; Adiyaman Pelin; Siklar Zeynep; Akar Nejat; Sahin Aynur; Akçayöz Duygu
Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome.
Pediatrics international : official journal of the Japan Pediatric Society 2008;50(2):172-4.
2008: Teber Serap; Sezer Taner; Kafali Mehpare; Manzini M Chiara; Konuk Yüksel Berrin; Tekin Mustafa; Fitöz Suat; Walsh Christopher A; Deda Gülhis
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(2):133-6.
2008: Akçaboy M I; Cengiz F B; Inceoglu B; Uçar T; Atalay S; Tutar E; Tekin M
The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?
Pediatric cardiology 2008;29(1):126-9.
2007: Fitoz Suat; Unsal Nuray; Tekin Mustafa; Tutar Ercan
Contrast-enhanced MR angiography of thoracic vascular malformations in children.
International journal of cardiology 2007;123(1):3-11.
2007: Salin-Cantegrel A; Rivière J-B; Dupré N; Charron F M; Shekarabi M; Karéméra L; Gaspar C; Horst J; Tekin M; Deda G; Krause A; Lippert M M; Willemsen M A A P; Jarrar R; Lapointe J-Y; Rouleau G A
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
Neurology 2007;69(13):1350-5.
2007: Doganc Tümay; Yüksel Konuk Berrin E; Alpan Nursel; Konuk Onur; Hämäläinen Riikka H; Lehesjoki Anna-Elina; Tekin Mustafa
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.
Clinical dysmorphology 2007;16(3):173-6.
2007: Tekin Mustafa; Arici Zehra Serap
Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification.
American journal of medical genetics. Part A 2007;143A(14):1583-91.
2007: Tekin Mustafa; Cengiz Filiz Basak; Ayberkin Eda; Kendirli Tanil; Fitoz Suat; Tutar Ercan; Ciftçi Ergin; Conba Atakan
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.
American journal of medical genetics. Part A 2007;143A(8):875-80.
2007: Sözener Zeynep Celebi; Tekin Mustafa; Mungan Dilsad; Karnak Demet
A 15-year-old girl with swelling of the face, legs, breast, and eyes.
Pediatric annals 2007;36(3):150-3.
2007: Fitoz Suat; Sennaroglu Levent; Incesulu Armagan; Cengiz Filiz Basak; Koç Yasemin; Tekin Mustafa
SLC26A4 mutations are associated with a specific inner ear malformation.
International journal of pediatric otorhinolaryngology 2007;71(3):479-86.
2007: Tekin Mustafa; Hismi Burcu Oztürk; Fitoz Suat; Ozdag Hilal; Cengiz Filiz Basak; Sirmaci Asli; Aslan Idil; Inceoglu Bora; Yüksel-Konuk E Berrin; Yilmaz Seda Tasir; Yasun Oztan; Akar Nejat
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
American journal of human genetics 2007;80(2):338-44.
2007: Cirçir Yaprak E; Incesulu Armagan; Tekin Mustafa
[Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss]
Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat 2007;17(2):75-80.
2006: Sirmaci Asli; Akcayoz-Duman Duygu; Tekin Mustafa
The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.
Journal of genetics 2006;85(3):213-6.
2006: Hismi Burcu Oztürk; Yilmaz Suna Tokgöz; Incesulu Armagan; Tekin Mustafa
Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes.
International journal of pediatric otorhinolaryngology 2006;70(10):1687-94.
2006: Ozçakar Z Birsin; Cengiz F Basak; Cakar Nilgün; Uncu Nermin; Kara Nazli; Acar Banu; Yüksel Selçuk; Ekim Mesiha; Tekin Mustafa; Yalçinkaya Fatos
Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.
Pediatric nephrology (Berlin, Germany) 2006;21(8):1093-6.
2006: Tekin Mustafa; Hismi Burcu Oztürk; Fitoz Suat; Yalçinkaya Fatos; Ekim Mesiha; Kansu Aydan; Ertem Mehmet; Deda Gülhis; Tutar Ercan; Arsan Saadet; Zhou Xiao-Ping; Pilarski Robert; Eng Charis; Akar Nejat
A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.
American journal of medical genetics. Part A 2006;140(13):1472-5.
2006: Akar Nejat; Hasipek Metis; Oztürk Aysenur; Akar Ece; Tekin Mustafa
Serum amyloid A1 -13 T/C alleles in Turkish familial Mediterranean fever patients with and without amyloidosis.
Journal of nephrology 2006;19(3):318-21.
2006: Tekin Mustafa; Fitoz Suat; Arici Serap; Cetinkaya Ergun; Incesulu Armagan
Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.
International journal of pediatric otorhinolaryngology 2006;70(5):885-9.
2006: Walsh Tom; Abu Rayan Amal; Abu Sa'ed Judeh; Shahin Hashem; Shepshelovich Jeanne; Lee Ming K; Hirschberg Koret; Tekin Mustafa; Salhab Wa'el; Avraham Karen B; King Mary-Claire; Kanaan Moien
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
Human genomics 2006;2(4):203-11.
2005: Snoeckx Rikkert L; Huygen Patrick L M; Feldmann Delphine; Marlin Sandrine; Denoyelle Françoise; Waligora Jaroslaw; Mueller-Malesinska Malgorzata; Pollak Agneszka; Ploski Rafal; Murgia Alessandra; Orzan Eva; Castorina Pierangela; Ambrosetti Umberto; Nowakowska-Szyrwinska Ewa; Bal Jerzy; Wiszniewski Wojciech; Janecke Andreas R; Nekahm-Heis Doris; Seeman Pavel; Bendova Olga; Kenna Margaret A; Frangulov Anna; Rehm Heidi L; Tekin Mustafa; Incesulu Armagan; Dahl Hans-Henrik M; du Sart Desirée; Jenkins Lucy; Lucas Deirdre; Bitner-Glindzicz Maria; Avraham Karen B; Brownstein Zippora; del Castillo Ignacio; Moreno Felipe; Blin Nikolaus; Pfister Markus; Sziklai Istvan; Toth Timea; Kelley Philip M; Cohn Edward S; Van Maldergem Lionel; Hilbert Pascale; Roux Anne-Françoise; Mondain Michel; Hoefsloot Lies H; Cremers Cor W R J; Löppönen Tuija; Löppönen Heikki; Parving Agnete; Gronskov Karen; Schrijver Iris; Roberson Joseph; Gualandi Francesca; Martini Alessandro; Lina-Granade Geneviéve; Pallares-Ruiz Nathalie; Correia Céu; Fialho Graça; Cryns Kim; Hilgert Nele; Van de Heyning Paul; Nishimura Carla J; Smith Richard J H; Van Camp Guy
GJB2 mutations and degree of hearing loss: a multicenter study.
American journal of human genetics 2005;77(6):945-57.
2005: Uçar T; Atalay S; Tekin M; Tutar E
Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with noonan syndrome.
Pediatric cardiology 2005;26(6):848-50.
2005: Ince Erdal; Ciftçi Ergin; Tekin Mustafa; Kendirli Tanil; Tutar Ercan; Dalgiç Nazan; Oncel Selim; Dogru Ulker
Characteristics of hyperthermia and its complications in patients with Prader Willi syndrome.
Pediatrics international : official journal of the Japan Pediatric Society 2005;47(5):550-3.
2005: Tekin Mustafa; Akcayoz Duygu; Incesulu Armagan
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
American journal of medical genetics. Part A 2005;138(1):6-10.
2005: Tekin Mustafa; Akcayoz Duygu; Ucar Canan; Gulen Huseyin; Akar Nejat
657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population.
Human biology; an international record of research 2005;77(3):393-7.
2005: Ikinciogullari Aydan; Tekin Mustafa; Dogu Figen; Reisli Ismail; Tanir Gonul; Yi Zanhua; Garrison Nanibaa; Brilliant Murray H; Babacan Emel
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.
European journal of pediatrics 2005;164(3):177-9.
2005: Tekin M; Bogoclu G; Arican S T; Orman M N; Tastan H; Elsobky E; Elsayed S; Akar N
Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.
Clinical genetics 2005;67(1):31-7.
2005: Alptekin N; Ozturk E A; Gok H; Yalcin P; Tekin M
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association.
Genetic counseling (Geneva, Switzerland) 2005;16(4):421-3.
2005: Arican S T; Incesulu A; Inceoglu B; Tekin M
Alterations in the GJB3 and CLDN14 genes in families with nonsyndromic sensorineural hearing loss.
Genetic counseling (Geneva, Switzerland) 2005;16(3):309-11.
2004: Tekin Mustafa; Kavaz Asli; Berberoglu Merih; Fitoz Suat; Ekim Mesiha; Ocal Gönül; Akar Nejat
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.
American journal of medical genetics. Part A 2004;130A(3):284-7.
2004: Tutar Ercan; Tekin Mustafa; Uçar Tayfun; Comak Elif; Ocal Burhan; Atalay Semra
Assessment of ventricular repolarization in a large group of children with early onset deafness.
Pacing and clinical electrophysiology : PACE 2004;27(9):1217-20.
2003: Tekin M; Akçayöz D; Comak E; Bogoçlu G; Duman T; Fitoz S; Ilhan I; Akar N
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
Clinical genetics 2003;64(4):371-4.
2003: Welch Katherine Oelrich; Tekin Mustafa; Nance Walter E; Blanton Susan H; Arnos Kathleen S; Pandya Arti
Chudley-McCullough syndrome: expanded phenotype and review of the literature.
American journal of medical genetics. Part A 2003;119A(1):71-6.
2003: Tekin Mustafa; Duman Türker; Bogoçlu Gönül; Incesulu Armagan; Comak Elif; Ilhan Inci; Akar Nejat
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.
Human mutation 2003;21(5):552-3.
2003: Tekin M; Duman T; Bogoçlu G; Incesulu A; Comak E; Fitoz S; Yilmaz E; Ilhan I; Akar N
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.
European journal of pediatrics 2003;162(3):154-8.
2003: Cabral Wayne A; Mertts Marianna V; Makareeva Elena; Colige Alain; Tekin Mustafa; Pandya Arti; Leikin Sergey; Marini Joan C
Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.
The Journal of biological chemistry 2003;278(12):10006-12.
2003: Akar Nejat; Akar Ece; Ozel Duygu; Tekin Mustafa; Ekim Mesiha; Yalçinkaya Fatos
A note on the mutation analysis in familial Mediterranean fever.
Pediatric nephrology (Berlin, Germany) 2003;18(2):196-7.
2003: Tekin M; Duman T; Bogoçlu G; Incesulu A; Cin S; Akar N
Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.
Genetic counseling (Geneva, Switzerland) 2003;14(4):379-86.
2002: Yalçinkaya F; Ince E; Uçar T; Ozkaya N; Tekin M; Elhan A H; Tutar E; Güriz D H; Aysev D; Gökdemir R; Dogru U; Tümer N
Antistreptococcal response is exaggerated in children with familial Mediterranean fever.
Clinical rheumatology 2002;21(5):378-81.
2002: Tekin Mustafa; Dogu F; Taçyíldiz N; Akar E; Ikinciogullari A; Ogur G; Yavuz G; Babacan E; Akar N
657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family.
Clinical genetics 2002;62(1):84-8.
2002: Ince Erdal; Cakar Nilgün; Tekin Mustafa; Kendirli Tanil; Ozkaya Nuray; Akar Nejat; Yalçinkaya Fatos
Arthritis in children with familial Mediterranean fever.
Rheumatology international 2002;21(6):213-7.
2002: Ellison Jay W; Tekin Mustafa; Sikes Karen Salvasen; Yankowitz Jerry; Shapiro Larry; Rappold Gudrun A; Neely Kirk E
Molecular characterization of a ring X chromosome in a male with short stature.
Human genetics 2002;110(4):322-6.
2002: Ming Jeffrey E; Kaupas Michelle E; Roessler Erich; Brunner Han G; Golabi Mahin; Tekin Mustafa; Stratton Robert F; Sujansky Eva; Bale Sherri J; Muenke Maximilian
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Human genetics 2002;110(4):297-301.
2002: Donofrio M T; Allen D R; Tekin M; Bodurtha J
Autosomal dominant myocardial disease diagnosed by fetal presentation of proband with an aneurysm of the muscular interventricular septum.
Pediatric cardiology 2002;23(1):27-31.
2001: Liu X Z; Xia X J; Adams J; Chen Z Y; Welch K O; Tekin M; Ouyang X M; Kristiansen A; Pandya A; Balkany T; Arnos K S; Nance W E
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.
Human molecular genetics 2001;10(25):2945-51.
2001: Tekin M; Jackson-Cook C; Pandya A
De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.
American journal of medical genetics 2001;104(1):42-6.
2001: Tekin M; Bodurtha J N; Nance W E; Pandya A
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
Clinical genetics 2001;60(4):301-4.
2001: Cakar N; Yalçinkaya F; Ozkaya N; Tekin M; Akar N; Koçak H; Misirlioglu M; Akar E; Tümer N
Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome.
Clinical and experimental rheumatology 2001;19(5 Suppl 24):S63-7.
2001: Tekin M; Arnos K S; Pandya A
Advances in hereditary deafness.
Lancet 2001;358(9287):1082-90.
2001: Tekin M; Akar N; Cin S; Blanton S H; Xia X J; Liu X Z; Nance W E; Pandya A
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
Human genetics 2001;108(5):385-9.
2001: Tekin M; Arnos K S; Xia X J; Oelrich M K; Liu X Z; Nance W E; Pandya A
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.
Clinical genetics 2001;59(4):269-73.
2001: Tekin M; Bodurtha J N; Riccardi V M
Café au lait spots: the pediatrician's perspective.
Pediatrics in review / American Academy of Pediatrics 2001;22(3):82-90.
2001: Tekin D; Yavuzer S; Tekin M; Akar N; Cin S
Possible effects of antioxidant status on increased platelet aggregation in childhood iron-deficiency anemia.
Pediatrics international : official journal of the Japan Pediatric Society 2001;43(1):74-7.
2000: Tekin M; Ng J; Bodurtha J
A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II.
European journal of pediatrics 2000;159(12):926-8.
2000: Tekin M; Jackson-Cook C; Buller A; Ferreira-Gonzalez A; Pandya A; Garrett C T; Bodurtha J
Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation.
American journal of medical genetics 2000;95(2):145-9.
2000: Yalçinkaya F; Tekin M; Cakar N; Akar E; Akar N; Tümer N
Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients.
QJM : monthly journal of the Association of Physicians 2000;93(10):681-4.
2000: Buller A; Pandya A; Jackson-Cook C; Bodurtha J; Tekin M; Wilkinson D S; Garrett C T; Ferreira-Gonzalez A
Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2000;5(3):239-43.
2000: Tekin M; Yalçinkaya F; Cakar N; Akar N; Misirlioglu M; Tastan H; Tümer N
MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?
Clinical genetics 2000;57(6):430-4.
2000: Tekin M; Yalçinkaya F; Tümer N; Akar N; Misirlioglu M; Cakar N
Clinical, laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis.
Acta paediatrica (Oslo, Norway : 1992) 2000;89(2):177-82.
2000: Yalçinkaya F; Cakar N; Misirlioglu M; Tümer N; Akar N; Tekin M; Tastan H; Koçak H; Ozkaya N; Elhan A H
Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis.
Rheumatology (Oxford, England) 2000;39(1):67-72.
2000: Tekin M; Tutar E; Arsan S; Atay G; Bodurtha J
Ophthalmo-acromelic syndrome: report and review.
American journal of medical genetics 2000;90(2):150-4.
2000: Tekin M; Ohle C; Johnson D E; Christmas J T; Bodurtha J
Counseling dilemmas in EEC syndrome.
Genetic counseling (Geneva, Switzerland) 2000;11(1):19-24.
1999: Tekin M; Bodurtha J; Ciftçi E; Arsan S
Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome.
American journal of medical genetics 1999;86(1):90-1.
1999: Tekin M; Yalçinkaya F; Tümer N; Cakar N; Koçak H; Ozkaya N; Gençgönül H
Familial Mediterranean fever--renal involvement by diseases other than amyloid.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1999;14(2):475-9.
1999: Tekin M; Yalçinkaya F; Tümer N; Cakar N; Koçak H
Familial Mediterranean fever and acute rheumatic fever: a pathogenetic relationship?
Clinical rheumatology 1999;18(6):446-9.
1998: Pasin M; Yavuzer S; Tekin M; Akar N; Violi F
Oxygen free radical-dependent increased platelet function in beta-thalassemia major patients.
Thrombosis research 1998;92(6):283-6.
1998: Tekin M; Akar N; Egin Y; Cin S
Serum superoxide dismutase levels of beta thalassemia patients and effects of high dosage of intravenous desferrioxamine treatment on superoxide dismutase levels.
Pediatric hematology and oncology 1998;15(4):371-4.
1997: Yalçinkaya F; Tekin M; Tümer N; Ozkaya N
Protracted arthritis of familial Mediterranean fever (an unusual complication).
British journal of rheumatology 1997;36(11):1228-30.

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