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1-20 of 54
Keywords: Whole-exome sequencing
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Journal Articles
Subject Area:
Genetics
Busra Aynekin, Bahadır M. Samur, Ummu Gulsum Ozgul Gumus, Kaya Bilguvar, Ayten Gulec, Stephanie Efthymiou, Hakan Gumus, Ahmet Okay Caglayan, Huseyin Per
Journal:
Molecular Syndromology
Mol Syndromol (2024)
Published Online: 14 December 2024
... with JBTS33 diagnosed through whole-exome sequencing. A novel biallelic homozygous nonsense mutation (ENST00000326291.11: c.1231C>T; p.Arg411Ter) in progesterone-induced blocking factor 1 (PIBF1) was identified. Results: Our study included 3 patients with the same homozygous mutation in PIBF1, which...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol 1–7.
Published Online: 10 December 2024
... by echocardiography. His sibling presented with similar features, including severe developmental delay and dilated cardiomyopathy. Whole-exome sequencing identified a homozygous likely pathogenic c.7645C>T (p.Gln2549Ter) variant in the HERC2 gene. This case report is significant as it describes dilated...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol 1–7.
Published Online: 29 November 2024
.... To elucidate the genetic cause of SRD, the patient was analyzed by whole-exome sequencing (WES) followed by mutation analysis. Methods: A complete clinical examination was performed by a pediatric neurologist. Brain imaging and a thorough neuro-metabolic investigation were applied along with biochemical tests...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol 1–12.
Published Online: 13 November 2024
... syndrome. Also, whole-exome sequencing was performed for all cases. Segregation analyses of the detected variants were performed according to the possibilities. Results: We present 3 Turkish patients with CACP syndrome mimicking juvenile idiopathic arthritis (JIA). All patients were exposed to biologic...
Journal Articles
Subject Area:
Genetics
Hande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K. Rai, Ilyas Kaya, Seda Erbilgin, Merve Cikili Uytun, Didem Oztop, Hakan Gumus, Huseyin Per, Serdar Ceylaner, Icten Bozkurt, Maria I. Kontaridis, Kaya Bilguvar, Nilay Akhun, Ayse Kilincaslan, Ahmet Okay Caglayan, E. Zeynep Erson-Omay, Murat Gunel, A. Gulhan Ercan-Sencicek
Journal:
Molecular Syndromology
Mol Syndromol 1–12.
Published Online: 06 November 2024
... unsuccessful. It is important to understand the mechanism of the disease to be able to find new treatments. Methods: We did whole-exome sequencing and standard Sanger sequencing on 7 cases of four consanguineous families diagnosed with autism spectrum disorder. Results: We identified two recurrent damaging...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol (2025) 16 (1): 93–98.
Published Online: 03 October 2024
... Metabolic disease Neurodevelopmental disorders Neutral lipid storage disease with myopathy Novel mutation Triacylglycerol Whole-exome sequencing Established Facts Neutral lipid storage disease is characterized by progressive muscle weakness. Myopathy and cardiac complications...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol 1–9.
Published Online: 26 September 2024
... clinical examination, laboratory tests, and imaging studies. Physical examination revealed extremity findings (brachydactyly, tapering fingers). Single whole-exome sequencing analysis was performed for clinical diagnosis. A novel missense variant, c.368T>A (p.Leu123Gln) in CUL3 , was discovered...
Journal Articles
Subject Area:
Genetics
Esra Çolak-Geniş, Müjdan Özdemir Erdoğan, Fethi Sırrı Çam, Ömer Aydemir, Funda Akin, Hamide Betül Gerik-Celebi, Mustafa Solak
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (6): 464–473.
Published Online: 14 June 2024
... the genetic change responsible for the emergence of the disease and to make a genotype-phenotype correlation. Methods: In this study, we evaluated single nucleotide gene variants in three families ( n = 6 patients) with bipolar disorder using whole-exome sequencing. Results: Seven genes ( TMTC1 , DGKH...
Journal Articles
Subject Area:
Genetics
Burhanettin Yalçınkaya, Kübra Adanur Sağlam, Kerem Terali, Emine Tekin, Hava Taslak, Ayberk Türkyılmaz
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (5): 380–388.
Published Online: 30 April 2024
... comprehensive clinical evaluation, followed by whole-exome sequencing (WES) coupled with copy number analysis (CNV), aimed at identifying potential disease-causing variants aligning with the observed phenotype. Results: Our findings detail an individual exhibiting developmental delay, hearing loss, visual...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (3): 202–210.
Published Online: 28 December 2023
... with IRD. Methods: Whole-exome sequencing was performed in 28 unrelated patients. The potential pathogenicity of variants was evaluated using the American College of Medical Genetics variant interpretation guidelines, in silico prediction tools, published literature or Human Gene Mutation Database...
Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Burcu Civelek Ürey, Ahmet Cevdet Ceylan, Büşranur Cavdarlı, Ayşegül Neşe Çıtak Kurt, Oya Kıreker Köylü, Burak Yürek, Çiğdem Seher Kasapkara
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (6): 459–460.
Published Online: 18 August 2023
... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 Succinate dehydrogenase deficiency Mitochondrial disease Leigh syndrome phenotype Whole-exome sequencing Metabolic diseases...
Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (6): 477–484.
Published Online: 07 July 2023
... of whole-exome sequencing (WES) data. We performed WES-based CNV identification in a cohort of 35 Iranian families with hereditary spastic paraplegia (HSP) patients. Methods: Thirty-five patients whose routine single-nucleotide variants (SNVs) and insertion/deletion analyses from exome data were...
Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (3): 208–218.
Published Online: 06 June 2023
... diagnosis yield using step-by-step genetic analysis in 38 patients with unexplained ID/DD and/or ASD. Methods: In 38 cases (27 male, 11 female) with unexplained ID/DD and/or ASD, chromosomal microarray (CMA) analysis, clinical exome sequencing (CES), and whole-exome sequencing (WES) analysis were applied...
Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Muhammad Bilal, Tobias B. Haack, Rebecca Buchert, Susana Peralta, Najum Uddin, Raja Hussain Ali, Khurram Liaqat, Wasim Ahmad
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (3): 201–207.
Published Online: 06 June 2023
... variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B. Results: Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in MEGF8 in family A and p.(Thr89Ile) in GJA1 in family B. Conclusion: In conclusion...
Journal Articles
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates)
,
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, Konstantina Kosma, Florentia Fostira, Joanne Traeger-Synodinos
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (3): 225–230.
Published Online: 06 June 2023
... with the autosomal recessive disorder postaxial polydactyly type A7 (PAPA7, MIM #617642). Case Presentation: A 3-year-old female patient was referred to our genetics department with postaxial polydactyly, syndactyly, brachydactyly, and hypoplastic teeth. Through whole-exome sequencing (WES), a pathogenic IQCE...
Journal Articles
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates)
,
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Feroz Khan, Abida Arshad, Asmat Ullah, Ellen Steenackers, Geert Mortier, Wasim Ahmad, Muhammad Arshad, Sarmir Khan, Amir Hayat, Ikram Khan, Muhammad Asim Khan, Wim Van Hul
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (3): 191–200.
Published Online: 06 June 2023
... spondylocostal dysotosis. Whole-exome sequencing (WES) followed by Sanger sequencing was performed using DNA of affected and unaffected individuals to identify pathogenic variant(s). The identified variant was interpreted using ACMG classification. Literature review was performed to summarize currently known...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (1): 43–50.
Published Online: 26 May 2023
... was performed on a 2-year-old patient who was admitted to our genetic diseases evaluation center by his family with a complaint of hypotonia. We detected a heterozygous NM_177559.3 ( CSNK2A1 ):c.1139_1140dupGG (p.Met381GlyfsTer32) variant in the CSNK2A1 gene from a whole-exome sequence analysis. Conclusion...
Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Giulia Rosti, Silvia Boeri, Maria Teresa Divizia, Livia Pisciotta, Maria Margherita Mancardi, Margherita Lerone, Maria Cerminara, Martina Servetti, Giovanni Spirito, Diego Vozzi, Marco Fontana, Stefano Gustincich, Lino Nobili, Federico Zara, Aldamaria Puliti
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (5): 433–438.
Published Online: 09 May 2023
... testing as first-tier analyses, but increasing evidence supports the use of whole-exome sequencing (WES) analysis for the diagnosis of NDD [Srivastava et al., 2019]. In fact, the reported diagnostic yield of WES analysis in individuals with autism spectrum disorder (ASD), a condition belonging to the NDD...
Journal Articles
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates)
,
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Burcu Civelek Ürey, Ahmet Cevdet Ceylan, Büşranur Çavdarlı, Ayşegül Neşe Çıtak Kurt, Oya Kıreker Köylü, Burak Yürek, Çiğdem Seher Kasapkara
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (2): 171–174.
Published Online: 20 April 2023
... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 Succinate dehydrogenase deficiency Mitochondrial disease Leigh syndrome phenotype Whole-exome sequencing Metabolic diseases Mitochondrial complex II...
Journal Articles
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates)
,
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (2): 164–170.
Published Online: 20 April 2023
... to in the content or advertisements. 2023 Neurological findings Novel mutation Osteogenesis imperfecta Whole-exome sequencing WNT1 gene Osteoporosis is a common skeletal disorder characterized by low bone mineral density and bone fragility. The majority of patients with osteogenesis...
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