Umut Altunoglu

Umut Altunoglu

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Umut Altunoglu

Umut Altunoglu

Publications by authors named "Umut Altunoglu"

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44Publications

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Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

Fetal Pediatr Pathol 2019 Apr 2;38(2):127-137. Epub 2019 Jan 2.

a Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine , Istanbul University , Istanbul , Turkey.

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https://www.tandfonline.com/doi/full/10.1080/15513815.2018.1
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http://dx.doi.org/10.1080/15513815.2018.1556367DOI Listing
April 2019

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.

Eur J Med Genet 2019 Jan 22. Epub 2019 Jan 22.

Istanbul University, Istanbul Faculty of Medicine, Pediatric Nephrology Department, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2019.01.011DOI Listing
January 2019

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.

Mol Cytogenet 2018 17;11:45. Epub 2018 Aug 17.

1Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Millet cad.34039 Capa, İstanbul, Turkey.

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http://dx.doi.org/10.1186/s13039-018-0395-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098576PMC
August 2018

Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.

Case Rep Genet 2017 3;2017:3740524. Epub 2017 Dec 3.

Department of Pediatrics, Division of Neonatology, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.

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https://www.hindawi.com/journals/crig/2017/3740524/
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http://dx.doi.org/10.1155/2017/3740524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733194PMC
December 2017

Homozygous mutation in leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

J Med Genet 2017 06 9;54(6):399-403. Epub 2017 Mar 9.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104237DOI Listing
June 2017

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

Eur J Med Genet 2017 Mar 24;60(3):163-168. Epub 2016 Dec 24.

Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2016.12.007DOI Listing
March 2017

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity.

Am J Med Genet A 2016 12 17;170(12):3282-3288. Epub 2016 Aug 17.

Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37931DOI Listing
December 2016

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Clin Dysmorphol 2016 Oct;25(4):192-4

aDepartment of Medical Genetics, Dr Faruk Sükan Maternity and Pediatric Hospital, Konya bDepartment of Medical Genetics, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000121DOI Listing
October 2016

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

J Clin Endocrinol Metab 2016 07 4;101(7):2759-67. Epub 2016 May 4.

Department of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1210/jc.2016-1005DOI Listing
July 2016

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Am J Med Genet A 2016 06 13;170(6):1391-9. Epub 2016 Apr 13.

Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.37652DOI Listing
June 2016

ALX4 related parietal foramina mimicking encephalocele in prenatal period.

Prenat Diagn 2016 Jun 17;36(6):591-3. Epub 2016 May 17.

Istanbul Medical Faculty, Department of Medical Genetics, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/pd.4826DOI Listing
June 2016

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.

Eur J Med Genet 2015 Jun-Jul;58(6-7):358-63. Epub 2015 May 23.

Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093 Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2015.05.003DOI Listing
March 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

Mutations in CDK5RAP2 cause Seckel syndrome.

Mol Genet Genomic Med 2015 Sep 24;3(5):467-80. Epub 2015 May 24.

Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585455PMC
September 2015

Postnatal diagnosis of 22q11.2 deletion syndrome in fetal megalourethra.

J Ultrasound Med 2015 Feb;34(2):349-51

Kadikoy Sifa Hospital, Istanbul, Turkey (T.D.), Cayeli Ishakoglu State Hospital, Cayeli, Turkey (B.K.B.), Department of Medical Genetics (U.A.), Department of Obstetrics and Gynecology (I.H.K., R.H., A.Y.), Department of Urology (T.O.), Istanbul Faculty of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.7863/ultra.34.2.349DOI Listing
February 2015

A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.

J Pediatr Neurosci 2014 Sep-Dec;9(3):290-1

Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Capa, Istanbul, Turkey.

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http://dx.doi.org/10.4103/1817-1745.147590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302560PMC
January 2015

Mild nasal clefting may be predictive for ALX4 heterozygotes.

Am J Med Genet A 2014 Aug 24;164A(8):2054-8. Epub 2014 Apr 24.

Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36578DOI Listing
August 2014

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.

Eur J Med Genet 2014 Apr 12;57(5):240-6. Epub 2014 Mar 12.

Center of Excellence in Medical Genetics Research, Chiang Mai University, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Thailand; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Thailand; DENTALAND CLINIC, Chiang Mai 50200, Thailand. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.014DOI Listing
April 2014

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

Am J Med Genet A 2014 Mar 19;164A(3):837-40. Epub 2013 Dec 19.

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

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http://dx.doi.org/10.1002/ajmg.a.36343DOI Listing
March 2014

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

Am J Med Genet A 2014 Feb 29;164A(2):484-9. Epub 2013 Oct 29.

Medical Genetics Unit, Kocaeli Derince Research and Education Hospital, Kocaeli, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36277DOI Listing
February 2014