Publications by authors named "Davut Pehlivan"

61Publications

Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.

Muscle Nerve 2020 Nov 4. Epub 2020 Nov 4.

Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine & Texas Children's Hospital, Houston, Texas, USA.

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http://dx.doi.org/10.1002/mus.27112DOI Listing
November 2020

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A 2020 Oct 24. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61926DOI Listing
October 2020

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Kidney Int 2020 10 22;98(4):1020-1030. Epub 2020 May 22.

Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2020.04.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7673260PMC
October 2020

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Am J Hum Genet 2017 Jul;101(1):149-156

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501868PMC
July 2017

Primary Amebic Meningoencephalitis in Children: A Report of Two Fatal Cases and Review of the Literature.

Pediatr Neurol 2017 05 22;70:75-79. Epub 2017 Feb 22.

Department of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994163076
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http://dx.doi.org/10.1016/j.pediatrneurol.2017.02.004DOI Listing
May 2017

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Am J Hum Genet 2016 Mar;98(3):562-570

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

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http://www.cell.com/ajhg/pdf/S0002-9297(16)00017-3.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971600017
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http://dx.doi.org/10.1016/j.ajhg.2016.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800043PMC
March 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

J Clin Endocrinol Metab 2015 May 16;100(5):E808-14. Epub 2015 Mar 16.

Department of Molecular and Human Genetics (Y.B., T.Ga., M.M.A., E.K., D.P., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Medicine, Division of Medical Genetics (S.G., H.U.G., S.B.P., M.L., T.W., M.-C.K.), University of Washington, Seattle, Washington 98195; Department of Pediatric Endocrinology and Diabetes (T.Gu., Z.A., S.T., A.Be.), Marmara University Hospital, Istanbul, Turkey 34899; Department of Pediatric Endocrinology (A.Ab., E.Bob., A.Bu.), Dokuz Eylül University Faculty of Medicine, Izmir, Turkey 35340; Department of Medical Genetics (G.Y.), Bezmialem University, Istanbul, Turkey 34093; Human Genome Sequencing Center (S.N.J., D.M., E.Boe., R.A.G.), Baylor College of Medicine, Houston, Texas 77030; Human Genetics Center (E.Boe.), University of Texas Health Science Center at Houston, Houston, Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2015-1150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422898PMC
May 2015

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.

J Clin Endocrinol Metab 2015 Jan;100(1):E140-7

Department of Molecular and Human Genetics (E.K., D.P., W.-L.C., Y.B., T.G., M.W., M.M.A., R.A.G., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Radiology (R.B.), Duzce University Medical School, 81620 Duzce, Turkey; Department of Medical Biology (K.O.Y.), Kahramanmaras Sutcu Imam University, Medical School, 46100 Kahramanmaras, Turkey; Department of Pediatric Endocrinology (I.A., S.B.), Duzce University Medical School, 81620 Duzce, Turkey; Center for Human Genetic Research (S.E.), Massachussetts General Hospital, Boston, Massachussetts 02114; Department of Radiology (A.B.), Duzce Ataturk Community Hospital, 81620 Duzce, Turkey; Department of Medical Biology and Genetics (E.Y.), Duzce University Institute of Health Science, 81620 Duzce, Turkey; Human Genome Sequencing Center (S.N.J., D.M.M., R.A.G.), Baylor College of Medicine, Houston Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-1984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283017PMC
January 2015

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell 2014 Sep;159(1):200-214

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298142PMC
September 2014

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Eur J Hum Genet 2014 Sep 15;22(9):1145-8. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA [3] Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135405PMC
September 2014

Replicative mechanisms for CNV formation are error prone.

Nat Genet 2013 Nov 22;45(11):1319-26. Epub 2013 Sep 22.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Centro de Pesquisas René Rachou-FIOCRUZ, Belo Horizonte, Brazil.

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http://dx.doi.org/10.1038/ng.2768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3821386PMC
November 2013

Metastasis: genetics, mechanism, and diagnostic and therapeutic strategies.

J Oncol 2012 30;2012:390835. Epub 2012 Dec 30.

Departments of Medical Genetics and Otorhinolaryngology, Faculty of Medicine, Fatih University, Istanbul, Turkey.

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http://dx.doi.org/10.1155/2012/390835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544302PMC
January 2013

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.

J Dermatol 2012 Dec 5;39(12):1016-21. Epub 2012 Oct 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1111/j.1346-8138.2012.01662.xDOI Listing
December 2012

Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report.

Tokai J Exp Clin Med 2011 Jul 20;36(2):29-30. Epub 2011 Jul 20.

Gaziantep University Faculty of Medicine, Department of Internal medicine, Gaziantep, Turkey .

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July 2011

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.

Eur J Med Genet 2010 Nov-Dec;53(6):378-82. Epub 2010 Aug 18.

Department of Biology and Genetics, Medical University of Gdansk, Poland.

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http://dx.doi.org/10.1016/j.ejmg.2010.08.002DOI Listing
June 2011

Loss of heterozygosity at chromosome 14q is associated with poor prognosis in head and neck squamous cell carcinomas.

J Cancer Res Clin Oncol 2008 Dec 3;134(12):1267-76. Epub 2008 Jun 3.

Department of Oral Pathology and Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Shikatacho 2-5-1, Okayama 700-8525, Japan.

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http://link.springer.com/10.1007/s00432-008-0423-1
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http://dx.doi.org/10.1007/s00432-008-0423-1DOI Listing
December 2008

Involvement of EphA2 in head and neck squamous cell carcinoma: mRNA expression, loss of heterozygosity and immunohistochemical studies.

Oncol Rep 2008 May;19(5):1079-84

Department of Oral Pathology and Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama City 700-8528, Japan.

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May 2008

Downregulation of ING3 mRNA expression predicts poor prognosis in head and neck cancer.

Cancer Sci 2008 Mar 15;99(3):531-8. Epub 2007 Dec 15.

Department of Oral Pathology and Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Shikatacho 2-5-1, Okayama, Japan.

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http://dx.doi.org/10.1111/j.1349-7006.2007.00708.xDOI Listing
March 2008

The role of GSTM1 gene polymorphisms in lung cancer development in Turkish population.

J Carcinog 2007 Sep 26;6:13. Epub 2007 Sep 26.

Yedikule Teaching Hospital for Chest Diseases and Thoracic Surgery, Depertmant of Thoracic Surgery, Istanbul, Turkey.

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http://dx.doi.org/10.1186/1477-3163-6-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2077864PMC
September 2007