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B. Karaman · SciRah

Researcher profile · Semantic Scholar

B. Karaman

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B. Karaman — researcher profile on SciRah

h-index: 14
Works: 91
Citations: 835

Most-cited papers

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
E. Szenker-Ravi, U. Altunoğlu, M. Leushacke, C. Bosso-Lefèvre +23 more
2018Nature163 citations Open access
Semantic Scholar
hKChIP2 is a functional modifier of hKv4.3 potassium channels: cloning and expression of a short hKChIP2 splice variant.
Niels Decher, O. Uyguner, Constanze R. Scherer, B. Karaman +4 more
2001Cardiovascular Research88 citations
Semantic Scholar
Congenital heart disease in children with Down’s syndrome: Turkish experience of 13 years
K. Nişli, N. Öner, S. Candan, H. Kayserili +8 more
2008Acta Cardiologica55 citations
Semantic Scholar
Maternal uniparental disomy 22 has no impact on the phenotype.
A. Schinzel, S. Başaran, F. Bernasconi, B. Karaman +2 more
1994American Journal of Human Genetics52 citations
Semantic Scholar
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
A. Kardelen, G. Toksoy, F. Baş, Zehra Yavaş Abalı +10 more
2018Journal of Clinical Research in Pediatric Endocrinology32 citations Open access
Semantic Scholar
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
F. Baş, G. Toksoy, Berrin Ergun-Longmire, Z. Uyguner +9 more
2018Journal of Steroid Biochemistry and Molecular Biology29 citations
Semantic Scholar
A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21.1–p13.3
O. Uyguner, H. Kayserili, Y. Li, B. Karaman +7 more
2007Clinical Genetics29 citations
Semantic Scholar
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
B. Karaman, H. Kayserili, A. Ghanbari, Z. Uyguner +3 more
2018Molecular Cytogenetics25 citations Open access
Semantic Scholar
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
Abdullah Uzumcu, B. Karaman, G. Toksoy, Z. Uyguner +7 more
2009European Journal of Medical Genetics21 citations
Semantic Scholar
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.
G. Toksoy, H. Durmuş, A. Aghayev, G. Bagirova +13 more
2019Neuromuscular Disorders19 citations
Semantic Scholar
Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul
Y. Ergul, K. Nişli, H. Kayserili, B. Karaman +5 more
2012Acta Cardiologica19 citations
Semantic Scholar
Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method.
C. Semerci, N. Şatıroğlu-Tufan, S. Turan, A. Bereket +7 more
2007Tohoku journal of experimental medicine18 citations Open access
Semantic Scholar
A large duplication involving the IHH locus mimics acrocallosal syndrome
M. Yuksel-Apak, N. Bögershausen, B. Pawlik, Yun Li +10 more
2012European Journal of Human Genetics17 citations Open access
Semantic Scholar
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey
G. Toksoy, Dilek Uludağ Alkaya, G. Bagirova, Ş. Avcı +12 more
2020Molecular Syndromology16 citations Open access
Semantic Scholar
Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging
G. Turkyilmaz, Tuğba Saraç Sivrikoz, Emircan Erturk, N. Ozcan +6 more
2019The journal of obstetrics and gynaecology research14 citations
Semantic Scholar
Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography.
Y. Ergul, K. Nişli, H. Kayserili, B. Karaman +6 more
2012Cardiology Journal14 citations Open access
Semantic Scholar
Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.
A. Yuksel, M. Seven, B. Karaman, Ş. Yılmaz +3 more
2002Clinical Dysmorphology13 citations
Semantic Scholar
Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center
Tuğba Saraç Sivrikoz, S. Başaran, R. Has, B. Karaman +4 more
2021Archives of Gynecology and Obstetrics12 citations
Semantic Scholar
Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey.
E. Oral, G. Toksoy, Nigar Sofiyeva, H. Çelik +4 more
2019Journal of Gynecology Obstetrics and Human Reproduction12 citations
Semantic Scholar
The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.
B. Karaman, M. Aytan, Kader Yilmaz, G. Toksoy +6 more
2006European Journal of Medical Genetics12 citations
Semantic Scholar
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
A. Gedikbaşı, G. Toksoy, Meryem Karaca, C. Gulec +10 more
2023Frontiers in Genetics10 citations Open access
Semantic Scholar
Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype
R. O. Rosti, K. Karaer, B. Karaman, D. Torun +2 more
2013American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
The Results of Cytogenetic Analysis with Regard to Intracytoplasmic Sperm Injection in Males, Females and Fetuses
S. Başaran, A. Engur, M. Aytan, B. Karaman +8 more
2004Fetal Diagnosis and Therapy10 citations
Semantic Scholar
Prenatal prediction of childhood‐onset spinal muscular atrophy (SMA) in Turkish families
S. Savas, Serpil Eraslan, S. Kantarci, B. Karaman +8 more
2002Prenatal Diagnosis10 citations
Semantic Scholar
Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
A. Theil, Alex Pines, T. Kalaycı, J. M. Heredia-Genestar +16 more
2023EMBO Molecular Medicine9 citations Open access
Semantic Scholar
Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism
S. Poyrazoglu, F. Baş, B. Karaman, M. Yıldız +2 more
2021Clinical Endocrinology9 citations
Semantic Scholar
Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings
H. Aslan, B. Karaman, G. Yildirim, Y. Ceylan
2005Prenatal Diagnosis8 citations
Semantic Scholar
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
N. Akcan, O. Uyguner, F. Baş, U. Altunoğlu +10 more
2022Journal of Clinical Research in Pediatric Endocrinology7 citations Open access
Semantic Scholar
Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
Z. Çetin, I. Mendilcioglu, S. Yakut, S. Berker-Karauzum +2 more
2011Balkan Journal of Medical Genetics7 citations Open access
Semantic Scholar
hKChIP 2 is a functional modifier of hKv 4 . 3 potassium channels : Cloning and expression of a short hKChIP 2 splice variant
Niels Decher, O. Uyguner, Constanze R. Scherer, B. Karaman +4 more
20017 citations
Semantic Scholar
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
S. Başaran, R. Has, I. Kalelioglu, Tuğba Saraç Sivrikoz +7 more
2022Genes6 citations Open access
Semantic Scholar
Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome.
Özdemir Çetin, C. Yalçınkaya, B. Karaman, V. Demirbilek +1 more
2018Epileptic disorders6 citations Open access
Semantic Scholar
Angelman syndrome: clinical findings and follow-up data of 14 patients.
B. Kara, B. Karaman, M. Ozmen, R. O. Rosti +3 more
2008Turkish Journal of Pediatrics6 citations Open access
Semantic Scholar
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey
T. Kalaycı, U. Altunoğlu, Aytul Çorbacıoğlu Esmer, Ş. Avcı +8 more
2022American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability
Tuğba Karaman Mercan, Ozden Altiok Clark, Ozgur Erkal, B. Nur +4 more
2021Cytogenetic and Genome Research5 citations
Semantic Scholar
18q Deletion Syndrome Associated with Autoimmune Thyroid Disease Presenting as Hyperthyroidism
Filiz Tutunculer, F. Darendeliler, H. Günöz, B. Karaman +1 more
2005Journal of Pediatric Endocrinology & Metabolism (JPEM)5 citations
Semantic Scholar
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
A. Kardelen, Adam Najaflı, F. Baş, B. Karaman +10 more
2023Journal of Clinical Research in Pediatric Endocrinology4 citations Open access
Semantic Scholar
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH
Ö. Anlaş, A. Ölmez, B. Karaman, Füsun Düzcan +4 more
2023Molecular Syndromology4 citations Open access
Semantic Scholar
Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.
A. Uzumcu, S. Candan, G. Toksoy, Z. Uyguner +8 more
2009Journal of genetics and genomics = Yi chuan xue bao4 citations
Semantic Scholar
Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype
G. Turgut, U. Altunoğlu, Tugba Sarac Sivrikoz, G. Toksoy +8 more
2022Clinical Genetics3 citations
Semantic Scholar
A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response.
Emre Özer, B. Karaman, N. Güneş, O. Evliyaoğlu +1 more
2021Turkish Journal of Pediatrics3 citations Open access
Semantic Scholar
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐B receptor (LBR)‐related regressive spondylometaphyseal dysplasia
G. Turgut, Çağrı Güleç, Tuğba Saraç Sivrikoz, H. Kale +3 more
2021American Journal of Medical Genetics. Part A3 citations
Semantic Scholar
Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents
D. U. Alkaya, B. Karaman, B. Tüysüz
2020Molecular Syndromology3 citations Open access
Semantic Scholar
Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements
N. Satkın, B. Karaman, S. Ergin, H. Kayserili +4 more
2020Balkan Journal of Medical Genetics3 citations Open access
Semantic Scholar
Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings
S. Başaran, R. Has, I. Kalelioglu, B. Karaman +5 more
2018Ultraschall in der Medizin - European Journal of Ultrasound3 citations
Semantic Scholar
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus
Gülnihal Bulut, G. Turgut, G. Toksoy, U. Altunoğlu +3 more
2024Molecular Syndromology2 citations Open access
Semantic Scholar
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye
Firdevs Dinçsoy Bir, Z. Uyguner, B. Karaman, C. Baykal +7 more
2024Molecular Syndromology2 citations
Semantic Scholar
A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases
E. Berkay, B. Karaman, S. Başaran
2023Systems Biology in Reproductive Medicine2 citations Open access
Semantic Scholar
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome
G. Turgut, I. Kalelioglu, V. Karaman, Tuğba Saraç Sivrikoz +3 more
2022Molecular Syndromology2 citations Open access
Semantic Scholar
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
E. Szenker-Ravi, U. Altunoğlu, M. Leushacke, C. Bosso-Lefèvre +23 more
2018Nature2 citations Open access
Semantic Scholar

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