Publications by authors named "Mustafa Tekin"

97Publications

A founder noncoding GALT variant interfering with splicing causes galactosemia.

J Inherit Metab Dis 2020 Aug 3. Epub 2020 Aug 3.

Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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http://dx.doi.org/10.1002/jimd.12293DOI Listing
August 2020

Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation.

World J Pediatr Congenit Heart Surg 2020 07 26;11(4):NP498-NP500. Epub 2020 May 26.

Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1177/2150135120902120DOI Listing
July 2020

X-linked peripheral retinoschisis without macular involvement: a case series with genetic confirmation.

Ophthalmic Genet 2020 02 3;41(1):57-62. Epub 2020 Mar 3.

Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, Miami, Florida, USA.

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http://dx.doi.org/10.1080/13816810.2020.1723115DOI Listing
February 2020

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.

Int J Pediatr Otorhinolaryngol 2020 Mar 16;130:109831. Epub 2019 Dec 16.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.

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http://dx.doi.org/10.1016/j.ijporl.2019.109831DOI Listing
March 2020

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.

Am J Med Genet A 2020 03 12;182(3):548-552. Epub 2019 Dec 12.

Division of Clinical and Translational Genetics, Department of Human Genetics, Miller School of Medicine, University of Miami, Coral Gables, Florida.

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http://dx.doi.org/10.1002/ajmg.a.61446DOI Listing
March 2020

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.

Clin Genet 2019 12 27;96(6):575-578. Epub 2019 Aug 27.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.

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http://dx.doi.org/10.1111/cge.13626DOI Listing
December 2019

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia.

Am J Ophthalmol Case Rep 2019 Sep 5;15:100486. Epub 2019 Jun 5.

Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, 900 NW 17th Avenue, Miami, FL, 33136, USA.

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http://dx.doi.org/10.1016/j.ajoc.2019.100486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579934PMC
September 2019

Adams-Oliver syndrome caused by mutations of the EOGT gene.

Am J Med Genet A 2019 11 31;179(11):2246-2251. Epub 2019 Jul 31.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61313DOI Listing
November 2019

The Generation of Zebrafish Mariner Model Using the CRISPR/Cas9 System.

Anat Rec (Hoboken) 2020 03 18;303(3):556-562. Epub 2019 Jul 18.

Department of Biology, University of Miami, Miami, Florida.

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http://dx.doi.org/10.1002/ar.24221DOI Listing
March 2020

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.

Hum Genet 2019 Oct 7;138(10):1071-1075. Epub 2019 Jun 7.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue BRB-610 (M-860), Miami, FL, USA.

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http://dx.doi.org/10.1007/s00439-019-02037-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745279PMC
October 2019

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Balkan Med J 2019 07 27;36(4):206-211. Epub 2019 May 27.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA

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http://dx.doi.org/10.4274/balkanmedj.galenos.2019.2019.4.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636654PMC
July 2019

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation.

J Mol Med (Berl) 2018 11 3;96(11):1227-1238. Epub 2018 Oct 3.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.

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http://link.springer.com/10.1007/s00109-018-1694-x
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http://dx.doi.org/10.1007/s00109-018-1694-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238639PMC
November 2018

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Mol Cytogenet 2018 1;11:43. Epub 2018 Aug 1.

1Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136 USA.

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http://dx.doi.org/10.1186/s13039-018-0390-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090943PMC
August 2018

KBG syndrome.

Orphanet J Rare Dis 2017 12 19;12(1):183. Epub 2017 Dec 19.

Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-336 (M-860), Miami, FL, 33136, USA.

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http://dx.doi.org/10.1186/s13023-017-0736-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735576PMC
December 2017

A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.

Acta Med Iran 2017 Oct;55(10):661-663

Department of Medical Genetics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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October 2017

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.

Clin Dysmorphol 2018 Jan;27(1):9-11

aGenomic Medicine ProgrambDr John T. Macdonald Foundation Department of Human GeneticscDivision of Pediatric Hematology and Oncology, Department of PediatricsdJohn P. Hussman Institute for Human GenomicseDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000200DOI Listing
January 2018

Research of genetic bases of hereditary non-syndromic hearing loss.

Turk Pediatri Ars 2017 Sep 1;52(3):122-132. Epub 2017 Sep 1.

Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri, Turkey.

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http://dx.doi.org/10.5152/TurkPediatriArs.2017.4254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644578PMC
September 2017

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Int J Pediatr Otorhinolaryngol 2017 Oct 8;101:167-171. Epub 2017 Aug 8.

John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5679420PMC
October 2017

A Novel Variant in Confirms its Causative Role in Sensorineural Hearing Loss.

Balkan Med J 2018 03 29;35(2):196-198. Epub 2017 Sep 29.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.

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http://dx.doi.org/10.4274/balkanmedj.2017.0946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863260PMC
March 2018

Novel EYA1 variants causing Branchio-oto-renal syndrome.

Int J Pediatr Otorhinolaryngol 2017 Jul 26;98:59-63. Epub 2017 Apr 26.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.04.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516569PMC
July 2017

Novel Causative Variants in , and Associated with Intellectual Disability and Additional Phenotypic Features.

J Pediatr Genet 2017 Jun 14;6(2):77-83. Epub 2017 Feb 14.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, United States.

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http://dx.doi.org/10.1055/s-0037-1598639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423827PMC
June 2017

Dominant deafness-onychodystrophy syndrome caused by an mutation.

Clin Case Rep 2017 04 8;5(4):376-379. Epub 2017 Feb 8.

John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA; Department of Human Genetics Dr. John T. Macdonald Foundation University of Miami Miller School of Medicine Miami Florida USA.

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http://dx.doi.org/10.1002/ccr3.761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378843PMC
April 2017

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Hear Res 2017 04 12;347:56-62. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.12.017DOI Listing
April 2017

Reply.

J AAPOS 2016 10 21;20(5):469-470. Epub 2016 Sep 21.

Department of Ophthalmology, Canakkale Onsekiz Mart University School of Medicine, Canakkale, Turkey.

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http://dx.doi.org/10.1016/j.jaapos.2016.07.224DOI Listing
October 2016

Clinical and pathological results of denosumab treatment for giant cell tumors of bone: Prospective study of 14 cases.

Acta Orthop Traumatol Turc 2017 Jan 24;51(1):1-6. Epub 2016 Oct 24.

Çukurova University Faculty of Medicine, Department of Orthopedics and Traumatology, Adana, Turkey.

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http://dx.doi.org/10.1016/j.aott.2016.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197547PMC
January 2017

Elastofibroma dorsi: Clinical evaluation of 61 cases and review of the literature.

Acta Orthop Traumatol Turc 2017 Jan 22;51(1):7-11. Epub 2016 Oct 22.

Çukurova University Faculty of Medicine, Department of Orthopedics and Traumatology, Adana, Turkey.

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http://dx.doi.org/10.1016/j.aott.2016.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197596PMC
January 2017

Audiological findings in Noonan syndrome.

Int J Pediatr Otorhinolaryngol 2016 Oct 27;89:50-4. Epub 2016 Jul 27.

Dr. John Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876163023
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http://dx.doi.org/10.1016/j.ijporl.2016.07.031DOI Listing
October 2016

Prolonged pacifier usage in infancy does not cause eating behavior problem later.

Turk J Pediatr 2015 Sep-Oct;57(5):487-91

Departments of Pediatrics, Çanakkale Onsekiz Mart University Faculty of Medicine, Çanakkale, Turkey.

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September 2017

Does intrauterine tobacco exposure increase the pain perception of newborns?

J Pain Res 2016 31;9:319-23. Epub 2016 May 31.

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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http://dx.doi.org/10.2147/JPR.S108500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898259PMC
June 2016

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity.

Cell 2016 Jun 9;166(1):88-101. Epub 2016 Jun 9.

Department of Pathology, New York University School of Medicine, New York, NY 10016, USA; Department of Microbiology and Immunology, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, New York University School of Medicine, New York, NY 10016, USA. Electronic address:

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http://www.cell.com/cell/pdf/S0092-8674(16)30585-2.pdf
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http://dx.doi.org/10.1016/j.cell.2016.05.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5030815PMC
June 2016

Correlation of ischemia-modified albumin levels and histopathologic findings in experimental ovarian torsion.

Turk J Emerg Med 2016 Mar 10;16(1):8-11. Epub 2016 Mar 10.

Department of Biochemistry, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.

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http://dx.doi.org/10.1016/j.tjem.2016.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882193PMC
March 2016

Relation between QT Variables and Left Ventricular Geometry in Athletes and Obese Children.

Acta Med Port 2016 Feb 29;29(2):95-100. Epub 2016 Feb 29.

Department of Pediatric Cardiology. Faculty of Medicine. Çanakkale Onsekiz Mart University. Çanakkale. Turkey.

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http://dx.doi.org/10.20344/amp.6538DOI Listing
February 2016

Do we really ponder about necessity of intravenous hydration in acute bronchiolitis?

Colomb Med (Cali) 2016 Mar 30;47(1):21-4. Epub 2016 Mar 30.

Çanakkale Onsekiz Mart University, Faculty of Medicine, Department of Pediatrics, Çanakkale, Türkiye.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867512PMC
March 2016

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136

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http://dx.doi.org/10.1073/pnas.1522512113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889368PMC
May 2016

Next generation sequencing: implications in personalized medicine and pharmacogenomics.

Mol Biosyst 2016 05;12(6):1818-30

Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Niayesh-Vali asr Intersection, Tehran, Iran.

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http://dx.doi.org/10.1039/c6mb00115gDOI Listing
May 2016

Serum ischemia-modified albumin levels in adolescent smokers.

Int J Adolesc Med Health 2016 Apr 9;30(1). Epub 2016 Apr 9.

Faculty of Medicine, Department of Pediatrics, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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http://dx.doi.org/10.1515/ijamh-2015-0128DOI Listing
April 2016

Hearing Assessment in Zebrafish During the First Week Postfertilization.

Zebrafish 2016 Apr 26;13(2):79-86. Epub 2016 Jan 26.

1 Department of Biology, University of Miami , Coral Gables, Florida.

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http://dx.doi.org/10.1089/zeb.2015.1166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799700PMC
April 2016

Anatomic compatibility of femoral intramedullary implants: a cadaveric study.

Acta Orthop Traumatol Turc 2016 ;50(2):222-6

Çukurova University Faculty of Medicine, Department of Orthopaedics and Traumatology, Adana, Turkey.

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http://dx.doi.org/10.3944/AOTT.2015.15.0204DOI Listing
December 2016

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Hear Res 2016 Mar 2;333:179-184. Epub 2016 Feb 2.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1016/j.heares.2016.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4798889PMC
March 2016

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.

Ann Saudi Med 2015 Nov-Dec;35(6):462-7

Dr. Seda Orenay-Boyacioglu, Department of Medical Genetics,, Celal Bayar University Faculty of Medicine,, Celal Bayar University,, Manisa 45010, Turkey,

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http://dx.doi.org/10.5144/0256-4947.2015.462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074473PMC
September 2016

Prenatal maternal risk factors for infantile colic.

Nurs Child Young People 2015 Dec;27(10):32-8

Çanakkale Onsekiz Mart University, Faculty of Medicine, Turkey.

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http://dx.doi.org/10.7748/ncyp.27.10.32.s28DOI Listing
December 2015

Benign Acute Childhood Myositis due to Toxoplasmosis.

Indian J Pediatr 2016 Jul 7;83(7):729. Epub 2015 Dec 7.

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University, 17000, Çanakkale, Turkey.

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http://dx.doi.org/10.1007/s12098-015-1948-3DOI Listing
July 2016

Association between teething and independent walking in healthy children.

Turk J Pediatr 2015 Jan-Feb;57(1):53-9

Department of Pediatrics, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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June 2016

Relationship between Abdominal Aortic Intima Media Thickness and Central Obesity in Children.

Horm Res Paediatr 2016 25;85(1):43-8. Epub 2015 Nov 25.

Department of Pediatrics, Faculty of Medicine, x00C7;anakkale Onsekiz Mart University, x00C7;anakkale, Turkey.

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http://dx.doi.org/10.1159/000442156DOI Listing
October 2016

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

PLoS One 2015 11;10(11):e0142154. Epub 2015 Nov 11.

Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0142154PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641619PMC
June 2016

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Orphanet J Rare Dis 2015 Sep 30;10:128. Epub 2015 Sep 30.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA.

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http://dx.doi.org/10.1186/s13023-015-0345-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589207PMC
September 2015

Glucagon-like peptide-2 exhibits protective effect on hepatic ischemia-reperfusion injury in rats.

Front Med 2015 Sep 19;9(3):368-73. Epub 2015 Aug 19.

Medical Faculty, Department of Pediatrics, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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http://dx.doi.org/10.1007/s11684-015-0403-1DOI Listing
September 2015

A Case of Giant Uterine Lipoleiomyoma Simulating Malignancy.

Case Rep Obstet Gynecol 2015 22;2015:926961. Epub 2015 Jul 22.

Department of Obstetrics and Gynecology, Yuzuncu Yil University, 65000 Van, Turkey.

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http://dx.doi.org/10.1155/2015/926961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525463PMC
August 2015

Serum Ischemia-Modified Albumin Levels in Experimental Model of Acute Pancreatitis.

J Coll Physicians Surg Pak 2015 Jun;25(6):395-8

Department of Pathology, Düzce Atatürk State Hospital, Düzce, Turkey.

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http://dx.doi.org/06.2015/JCPSP.395398DOI Listing
June 2015

Protective role of Proanthocyanidin in experimental ovarian torsion.

Med J Islam Repub Iran 2015 23;29:185. Epub 2015 Feb 23.

Assistant Professor, Department of Emergency Medicine, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431445PMC
June 2015

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.

J Pediatr 2015 Aug 23;167(2):489-91. Epub 2015 May 23.

Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.04.069DOI Listing
August 2015

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.

BMC Med Genet 2015 Feb 25;16. Epub 2015 Feb 25.

John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

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http://dx.doi.org/10.1186/s12881-015-0149-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422282PMC
February 2015

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.

Nephron 2015 28;130(1):54-8. Epub 2015 Apr 28.

Department of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1159/000381465DOI Listing
February 2016

Whole-exome sequencing and its impact in hereditary hearing loss.

Genet Res (Camb) 2015 Mar 31;97:e4. Epub 2015 Mar 31.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Miller School of Medicine,University of Miami,USA.

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http://dx.doi.org/10.1017/S001667231500004XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503681PMC
March 2015

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Mol Genet Genomics 2015 Aug 30;290(4):1327-34. Epub 2015 Jan 30.

Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.

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http://dx.doi.org/10.1007/s00438-015-0995-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707654PMC
August 2015

Effect of delivery mode on postpartum neonatal body temperatures.

J Matern Fetal Neonatal Med 2016 8;29(3):385-8. Epub 2015 Jan 8.

d Department of Anesthesiology and Reanimation, Medical Faculty , Dokuz Eylül University , İzmir , Turkey.

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http://dx.doi.org/10.3109/14767058.2014.1001359DOI Listing
October 2016

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.

Dev Cell 2015 Jan 31;32(1):31-42. Epub 2014 Dec 31.

Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McEwen Center for Regenerative Medicine, University Health Network, Toronto, ON M5G 1L7, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X5, Canada; Department of Physiology, University of Toronto, Toronto, ON M5G 1X5, Canada. Electronic address:

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http://www.cell.com/developmental-cell/pdf/S1534-5807(14)007
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http://linkinghub.elsevier.com/retrieve/pii/S153458071400770
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http://dx.doi.org/10.1016/j.devcel.2014.11.031DOI Listing
January 2015

The effects of passive smoking on the six-minute walk test in obese pediatric cases.

J Clin Res Pediatr Endocrinol 2014 Dec;6(4):245-9

Çanakkale Onsekiz Mart University Faculty of Medicine, Department of Pediatrics, Çanakkale, Turkey. E-ma-il:

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http://dx.doi.org/10.4274/Jcrpe.1524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293660PMC
December 2014

The effect of radiofrequency thermal ablation method on nasal mucociliary activity in patients with inferior turbinate hypertrophy.

Kulak Burun Bogaz Ihtis Derg 2014 Sep-Oct;24(5):247-53

Department of Otolaryngology, Acıpayam State Hospital, Denizli, Turkey.

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http://dx.doi.org/10.5606/kbbihtisas.2014.25986DOI Listing
October 2015

Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.

Indian Pediatr 2014 Nov;51(11):919-20

Department of Pediatrics, Division of Genetics, MAMC and Associated Lok Nayak Hospital, New Delhi, India; and *John P Hussman Institute for Human Genetics, University of Miami, Miller Scool of Medicine, Miami, FL, USA. Correspondence to: Dr Seema Kapoor, M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-014-0529-2DOI Listing
November 2014

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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http://dx.doi.org/10.1007/s00439-014-1509-2DOI Listing
February 2015

Early detection of myocardial deformation by 2D speckle tracking echocardiography in normotensive obese children and adolescents.

Anatol J Cardiol 2015 Feb 8;15(2):151-7. Epub 2014 Apr 8.

Department of Pediatric Cardiology, Faculty of Medicine, Çanakkale Onsekiz Mart University; Çanakkale-Turkey.

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http://dx.doi.org/10.5152/akd.2014.5189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5337002PMC
February 2015

Reply to Teasdale and Collins: N-terminal region of FAM65B bears similarity to the PX-BAR module of SNX33.

Proc Natl Acad Sci U S A 2014 Sep 19;111(39):E4065. Epub 2014 Sep 19.

Dr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136

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http://dx.doi.org/10.1073/pnas.1413860111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191807PMC
September 2014

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.

Int J Pediatr Otorhinolaryngol 2014 Nov 23;78(11):1870-3. Epub 2014 Aug 23.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2014.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208623PMC
November 2014

Complement activation by ligand-driven juxtaposition of discrete pattern recognition complexes.

Proc Natl Acad Sci U S A 2014 Sep 2;111(37):13445-50. Epub 2014 Sep 2.

Department of Biomedicine, Health, Aarhus University, 8000 Aarhus C, Denmark;

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http://dx.doi.org/10.1073/pnas.1406849111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169954PMC
September 2014

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.

1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.

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http://dx.doi.org/10.1089/gtmb.2014.0121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150376PMC
September 2014

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9864-8. Epub 2014 Jun 23.

Dr. John T. Macdonald Foundation Department of Human Genetics,John P. Hussman Institute for Human Genomics, andDivision of Pediatric Genetics, Ankara University School of Medicine, Ankara 06100, Turkey

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http://dx.doi.org/10.1073/pnas.1401950111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103326PMC
July 2014

Mean platelet volume and ischemia modified albumin levels in cord blood of infants of diabetic mothers.

Pediatr Neonatol 2014 Dec 20;55(6):455-8. Epub 2014 May 20.

Çanakkale Onsekiz Mart University Medical Faculty, Department of Obstetrics and Gynecology, Çanakkale, Turkey.

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http://dx.doi.org/10.1016/j.pedneo.2014.02.002DOI Listing
December 2014

Evidence for genotype-phenotype correlation for OTOF mutations.

Int J Pediatr Otorhinolaryngol 2014 Jun 28;78(6):950-3. Epub 2014 Mar 28.

Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States; Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2014.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066206PMC
June 2014

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.

Eur J Pediatr 2014 Jun 16;173(6):827-30. Epub 2014 Apr 16.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA,

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http://dx.doi.org/10.1007/s00431-014-2320-8DOI Listing
June 2014