Yasemin Alanay

Yasemin Alanay

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.

Turk J Pediatr 2018 ;60(5):506-513

Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.24953/turkjped.2018.05.006DOI Listing
June 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.

Eur J Med Genet 2019 Apr 30. Epub 2019 Apr 30.

Acibadem Mehmet Ali Aydinlar University School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.04.016DOI Listing
April 2019

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.

BMC Med Genet 2019 01 14;20(1):15. Epub 2019 Jan 14.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1186/s12881-019-0746-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332616PMC
January 2019

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.

Eur J Obstet Gynecol Reprod Biol 2018 Feb 16;221:76-80. Epub 2017 Dec 16.

Hacettepe University, Faculty of Medicine, Department of Pediatrics, Department of Pediatric Genetics, Ankara, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S03012115173058
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http://dx.doi.org/10.1016/j.ejogrb.2017.12.028DOI Listing
February 2018

Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome.

J Pediatr Hematol Oncol 2018 01;40(1):81-82

Department of Pediatrics, Division of Bone Marrow Transplantation Unit, Faculty of Medicine.

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http://dx.doi.org/10.1097/MPH.0000000000000969DOI Listing
January 2018

Parieto-occipital alopecia in early infancy mandates cranial imaging.

Clin Dysmorphol 2018 Jan;27(1):15-17

Pediatric Genetics Unit, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University.

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http://dx.doi.org/10.1097/MCD.0000000000000206DOI Listing
January 2018

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

Turk J Pediatr 2016 ;58(5):541-544

Acıbadem University Faculty of Medicine, Division of Pediatrics Endocinology, İstanbul, Turkey.

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http://dx.doi.org/10.24953/turkjped.2016.05.014DOI Listing
September 2017

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen.

J Bone Miner Res 2017 Jun 6;32(6):1309-1319. Epub 2017 Apr 6.

Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/jbmr.3095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466459PMC
June 2017

AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype.

Am J Med Genet A 2016 12 17;170(12):3231-3236. Epub 2016 Aug 17.

Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.37882DOI Listing
December 2016

Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.

Pediatr Dermatol 2015 Nov-Dec;32(6):e263-6. Epub 2015 Oct 8.

Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.

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http://dx.doi.org/10.1111/pde.12693DOI Listing
September 2016

Is 1p36 deletion associated with anterior body wall defects?

Am J Med Genet A 2016 07 4;170(7):1889-94. Epub 2016 May 4.

Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.37666DOI Listing
July 2016

Late Sequel of Meningococcemia: Skeletal Dysplasia.

J Pediatr 2016 06 6;173:264-264.e2. Epub 2016 Mar 6.

Department of Pediatric Endocrinology, Kocaeli University, School of Medicine, Kocaeli, Turkey.

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http://dx.doi.org/10.1016/j.jpeds.2016.02.022DOI Listing
June 2016

Celiac disease in Williams-Beuren syndrome.

Turk J Pediatr 2014 Mar-Apr;56(2):154-9

Units of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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March 2016

A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.

Turk J Pediatr 2014 Jul-Aug;56(4):430-3

Division of Medical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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March 2016

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Turk J Pediatr 2014 Jan-Feb;56(1):80-4

Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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September 2015

Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.

Am J Med Genet A 2015 Sep 30;167A(9):2065-74. Epub 2015 Apr 30.

Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.37122DOI Listing
September 2015

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

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Nat Genet 2015 Jan 24;47(1):73-7. Epub 2014 Nov 24.

1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.

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http://www.nature.com/articles/ng.3153
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http://dx.doi.org/10.1038/ng.3153DOI Listing
January 2015

Prepubertal unilateral gynecomastia: report of 2 cases.

J Clin Res Pediatr Endocrinol 2014 Dec;6(4):250-3

Diyarbakır Children State Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey. E-mail:

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http://dx.doi.org/10.4274/Jcrpe.1477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293661PMC
December 2014

Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report.

Clin Dysmorphol 2014 Oct;23(4):147-51

Departments of aMedical Genetics bPediatrics, Pediatric Genetics, Hacettepe University, Ankara, Turkey cJena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Jena, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000042DOI Listing
October 2014

Etiological yield of SNP microarrays in idiopathic intellectual disability.

Eur J Paediatr Neurol 2014 May 25;18(3):327-37. Epub 2014 Jan 25.

Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey; Hacettepe University, Department of Medical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejpn.2014.01.004DOI Listing
May 2014

Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects.

Pediatr Int 2014 Apr 28;56(2):167-72. Epub 2014 Jan 28.

Pediatric Cardiology, Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1111/ped.12222DOI Listing
April 2014

Report of a patient with Temple-Baraitser syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):848-51. Epub 2013 Dec 19.

Department of Medical Genetics, Bezmialem Vakif University Medicine, Istanbul, Fatih, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36344DOI Listing
March 2014

XYLT1 mutations in Desbuquois dysplasia type 2.

Am J Hum Genet 2014 Mar 27;94(3):405-14. Epub 2014 Feb 27.

Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951945PMC
March 2014

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Am J Med Genet A 2014 Feb 5;164A(2):291-304. Epub 2013 Nov 5.

Department of Pediatrics, Pediatric Genetics, Hacettepe University Medical Faculty, Ankara, Turkey; Department of Pediatrics, Pediatric Genetics, Acıbadem University Medical Faculty, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36248DOI Listing
February 2014

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

Three patients resembling Teebi-Shaltout syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2570-5. Epub 2013 Aug 5.

Mersin Maternity and Children Hospital, Medical Genetic Department, Mersin, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36082DOI Listing
October 2013

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.

J Child Neurol 2013 Jul 22;28(7):926-32. Epub 2013 Apr 22.

Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/0883073813484967DOI Listing
July 2013

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Hum Mol Genet 2013 Apr 17;22(8):1643-53. Epub 2013 Jan 17.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.

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http://dx.doi.org/10.1093/hmg/ddt014DOI Listing
April 2013

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).

Eur J Pediatr 2012 Oct 17;171(10):1567-71. Epub 2012 Apr 17.

Department of Pediatrics, Division of Pediatric Genetic, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-012-1732-6DOI Listing
October 2012

MRI findings of intracranial malformations in a case with Fraser syndrome.

Clin Dysmorphol 2012 Oct;21(4):234-6

Department of Radiology, Hacettepe Medical School, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3283571699DOI Listing
October 2012

IMPAD1 mutations in two Catel-Manzke like patients.

Am J Med Genet A 2012 Sep 6;158A(9):2183-7. Epub 2012 Aug 6.

Département de génétique, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35504DOI Listing
September 2012

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.

Turk J Pediatr 2012 Mar-Apr;54(2):198-202

Division of Clinical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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August 2012

Wiedemann-Rautenstrauch syndrome: report of a variant case.

Am J Med Genet A 2012 Jun 14;158A(6):1434-6. Epub 2012 May 14.

Department of Medical Genetics, Maternitiy and Children Hospital, Mersin, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.35336DOI Listing
June 2012

A review of the principles of radiological assessment of skeletal dysplasias.

J Clin Res Pediatr Endocrinol 2011 ;3(4):163-78

Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Acibadem University, Istanbul, Turkey.

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http://dx.doi.org/10.4274/jcrpe.463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245489PMC
April 2012

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Turk J Pediatr 2011 Sep-Oct;53(5):558-60

Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://www.turkishjournalpediatrics.org/pediatrics/pdf/pdf_T
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February 2012

Spondyloenchondrodysplasia: a rare cause of short stature.

Turk J Pediatr 2011 Jul-Aug;53(4):464-6

Department of Endocrinology and Diabetes, Kocaeli University Faculty of Medicine, Turkey.

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November 2011

Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

Am J Med Genet A 2011 Sep 10;155A(9):2288-92. Epub 2011 Aug 10.

Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.34163DOI Listing
September 2011

Cowden syndrome with bronchial asthma.

Turk J Pediatr 2010 May-Jun;52(3):330-2

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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September 2010

Intracranial and extracranial malformations in patients with craniofacial anomalies.

J Craniofac Surg 2010 Sep;21(5):1460-4

Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Hacettepe University, Sıhhiye, Ankara, Turkey.

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http://dx.doi.org/10.1097/SCS.0b013e3181ebcd27DOI Listing
September 2010

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.

Eur J Pediatr 2010 Mar 4;169(3):363-7. Epub 2009 Aug 4.

Department of Pediatric Nephrology and Rheumatology, Gulhane Military Medical Academy, School of Medicine, 06018 Etlik, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-009-1028-7DOI Listing
March 2010

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.

Turk J Pediatr 2009 Sep-Oct;51(5):493-6

Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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February 2010

Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth.

J Pediatr Surg 2010 Jan;45(1):E19-23

Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S00223468090085
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http://dx.doi.org/10.1016/j.jpedsurg.2009.10.059DOI Listing
January 2010

ALX4 dysfunction disrupts craniofacial and epidermal development.

Hum Mol Genet 2009 Nov 19;18(22):4357-66. Epub 2009 Aug 19.

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

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http://dx.doi.org/10.1093/hmg/ddp391DOI Listing
November 2009

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Turk J Pediatr 2009 May-Jun;51(3):199-206

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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October 2009

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

Turk J Pediatr 2009 May-Jun;51(3):294-7

Unit of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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October 2009

Le Fort III bipartition osteotomy to treat a rare craniofacial anomaly: frontofacionasal dysostosis.

J Craniofac Surg 2009 Jul;20(4):1056-8

Department of Plastic and Reconstructive Surgery, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1097/scs.0b013e3181abb29fDOI Listing
July 2009

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance.

Am J Med Genet A 2009 Jun;149A(6):1317-8

Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.32825DOI Listing
June 2009

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.

Acta Ophthalmol 2009 Feb 19;87(1):52-7. Epub 2008 Jun 19.

Ulucanlar Eye Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1111/j.1600-0420.2007.01082.xDOI Listing
February 2009

Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment.

Pediatr Int 2008 Dec;50(6):836-8

Division of Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1111/j.1442-200X.2008.02752.xDOI Listing
December 2008

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

Eur J Med Genet 2008 Jul-Aug;51(4):343-50. Epub 2008 Mar 27.

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2008.03.002DOI Listing
October 2008

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Turk J Pediatr 2008 May-Jun;50(3):287-90

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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October 2008

Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome.

Clin Dysmorphol 2008 Oct;17(4):289-90

Department of Paediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3283079e7cDOI Listing
October 2008

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

Am J Med Genet A 2008 Aug;146A(15):1917-24

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713784PMC
August 2008

Clinical and radiographic delineation of odontochondrodysplasia.

Am J Med Genet A 2008 Mar;146A(6):770-8

Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32214DOI Listing
March 2008

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.

J Neurosurg 2007 Dec;107(6 Suppl):504-7

Department of Neurosurgery, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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December 2007

The skeletal dysplasias: clinical-molecular correlations.

Ann N Y Acad Sci 2007 Nov;1117:302-9

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, 665W, Los Angeles, CA 90048, USA.

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http://doi.wiley.com/10.1196/annals.1402.072
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November 2007

Cavernous malformation with Poland-Möbius syndrome. Case illustration.

J Neurosurg 2007 Jul;107(1 Suppl):79

Department of Neurosurgery, Yeditepe University, Istanbul, Turkey.

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July 2007