Yayın Ağı
SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.
Autosomal recessive otospondylo-mega-epiphyseal dysplasia: Comprehensive clinical review of a pediatric cohort
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.108, sa.10, ss.1981-2005, 2021 (SCI-Expanded)
Genotype-phenotype correlations in hereditary multiple exostoses
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.834, 2020 (SCI-Expanded)
Jeune Syndrome with a novel DYNC2H1 mutation
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.835-836, 2020 (SCI-Expanded)
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Journal of intellectual disability research : JIDR
, cilt.64, sa.12, ss.956-969, 2020 (SCI-Expanded)
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age
The genomic and clinical landscape of fetal akinesia
A rare cause of hypophosphatemia: Raine Syndrome
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.384, 2019 (SCI-Expanded)
Does the clinical phenotype of mucolipidosis-III gamma differ from its alpha beta counterpart?: supporting facts in a cohort of 18 patients
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS
Novel EYA1 variants causing Branchio-oto-renal syndrome
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
, cilt.98, ss.59-63, 2017 (SCI-Expanded)
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
JOURNAL OF CLINICAL INVESTIGATION
, cilt.126, sa.2, ss.762-778, 2016 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 84
- Policy Citations: 1
- Captures
- Readers: 66
- Mentions
- Blog Mentions: 1
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey
JOURNAL OF HUMAN GENETICS
, cilt.60, sa.1, ss.1-9, 2015 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 36
- Policy Citations: 1
- Captures
- Readers: 77
- Mentions
- Blog Mentions: 1
Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.95, sa.3, ss.285-293, 2014 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 104
- Patent Family Citations: 1
- Captures
- Readers: 111
- Mentions
- References: 9
Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.164, sa.9, ss.2328-2334, 2014 (SCI-Expanded)
Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism
Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients
A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Human Molecular Genetics
, cilt.22, sa.25, ss.5121-5135, 2013 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 192
- Policy Citations: 2
- Captures
- Readers: 174
- Mentions
- Blog Mentions: 1
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
Schmidts M., Vodopiutz J., Christou-Savina S., Cortes C. R., McInerney-Leo A. M., Emes R. D., et al.
American Journal of Human Genetics
, cilt.93, sa.5, ss.932-944, 2013 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 103
- Policy Citations: 1
- Captures
- Readers: 105
- Mentions
- News Mentions: 1
Mutations in the interleukin receptor IL11RA cause autosomal recessive crouzon-like craniosynostosis
Molecular Genetics and Genomic Medicine
, cilt.1, sa.4, ss.223-237, 2013 (SCI-Expanded)
Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
JOURNAL OF MEDICAL GENETICS
, cilt.50, sa.5, ss.309-323, 2013 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 113
- Policy Citations: 1
- Captures
- Readers: 110
- Mentions
- Blog Mentions: 1
Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
, cilt.160C, sa.3, ss.217-229, 2012 (SCI-Expanded)
PAPSS2 mutations cause autosomal recessive brachyolmia
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome
JOURNAL OF BONE AND MINERAL RESEARCH
, cilt.26, sa.3, ss.666-672, 2011 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 156
- Policy Citations: 1
- Clinical Citations: 1
- Captures
- Readers: 116
- Mentions
- References: 3
Marie Unna Hereditary Hypotrichosis: A Turkish Family With Loss of Eyebrows and a U2HR Mutation
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.152A, sa.10, ss.2628-2633, 2010 (SCI-Expanded)
Mutational Spectrum of the Oral-Facial-Digital Type I Syndrome: A Study on a Large Collection of Patients
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome - An autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13
Mucopolysaccharidosis disorders - Abstracts
ACTA PAEDIATRICA
, cilt.97, ss.97, 2008 (SCI-Expanded)
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.143A, sa.12, ss.1308-1312, 2007 (SCI-Expanded)
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR
Clinical and Experimental Obstetrics and Gynecology
, cilt.33, sa.2, ss.105-106, 2006 (SCI-Expanded)
Prolidase deficiency associated with hemoglobin O trait and microcytic anemia
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
NATURE GENETICS
, cilt.38, sa.5, ss.521-524, 2006 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 232
- Policy Citations: 1
- Clinical Citations: 1
- Captures
- Readers: 110
- Mentions
- References: 1
Muir-Torre syndrome
Recessive omodysplasia: five new cases and review of the literature
Colobomatous macrophthalmia with microcornea syndrome: Report of a new pedigree
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.121A, sa.1, ss.25-30, 2003 (SCI-Expanded)
Human Piebaldism: Six Novel Mutations of the Proto-oncogene KIT
Dysosteosclerosis: a report of three new cases and evolution of the radiological findings
Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations
Jeune's asphyxiating thoracic dystrophy of the newborn
RENAL-FUNCTION DISORDERS IN NEWBORNS WITH PERINATAL ASPHYXIA
AN EPIDEMIOLOGIC APPROACH TO ACUTE-RENAL-FAILURE IN CHILDREN
Diğer Dergilerde Yayınlanan Makaleler
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
Exome sequencing reveals novel candidate genes and potential oligogenic inheritance in patients with the complex trait arthrogryposis
71st Annual Meeting of the American-Academy-of-Neurology (AAN), Pennsylvania, Amerika Birleşik Devletleri, 4 - 10 Mayıs 2019, cilt.92
Molecular characterization and haplotype analysis in a large group of Mucopolysaccharidosis type IIIC (MPS IIIC) patients reveal the evolutionary history of the disease
Martins C., Frassinetti de Medeiros P., Leistner-Segal S., Elcioglu N., Behnam M., Lacerda L., et al.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.778
Çocukluk Çağında Diyabetin Nadir bir Nedeni: Glukokinaz Mutasyonu (MODY 2)
62. Türkiye Milli Pediatri kongresi-2. Kosova -Türkiye Pediatri kongresi, Antalya, Türkiye, 15 - 19 Kasım 2017
Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder
63rd AAN Annual Meeting, Hawaii, Amerika Birleşik Devletleri, 9 - 16 Nisan 2011, cilt.76
Werner Syndrome and Rothmund-Thomson syndrome: are they some cases with overlapping phenotypes resembling both disease?
British Human Genetics Conference, York, Sierra Leone, 15 - 17 Eylül 2008, cilt.45
POMPE DISEASE AND EXPERIENCE WITH PRENATAL DIAGNOSIS
5th Symposium on Lysosomal Storage Disorders, Paris, Fransa, 10 - 12 Nisan 2008, cilt.30
SEPN-related myopathy: an emerging entity phenotypical and molecular analysis of 80 cases
10th International Congress of the World-Muscle-Society, Iguassu Falls, Brezilya, 28 Eylül - 10 Ekim 2005, cilt.15, ss.715
Isolated fetal choroid plexus cysts and association with chromosome anomalies
European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics, Strasbourg, Fransa, 25 - 28 Mayıs 2002, cilt.10, ss.276-277
Spondylothoracic dysplasia (Jarcho-Levin syndrome) and Spondylocostal dysostosis, the confusing vertebral malsegmentation syndromes. Report of six cases
European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics, Strasbourg, Fransa, 25 - 28 Mayıs 2002, cilt.10, ss.113
Kitaplar
