Hulya Kayserili

Hulya Kayserili

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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

A rare cause of chronic hyponatremia in an infant: Questions.

Pediatr Nephrol 2019 Aug 19. Epub 2019 Aug 19.

Division of Pediatric Nephrology, Department of Pediatrics, Koç University School of Medicine, Davutpaşa cad no:4 Topkapı, 34010, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04335-2DOI Listing
August 2019

A rare cause of chronic hyponatremia in an infant: Answers.

Pediatr Nephrol 2019 Aug 19. Epub 2019 Aug 19.

Division of Pediatric Nephrology, Department of Pediatrics, Koç University School of Medicine, Davutpaşa cad no:4 Topkapı, 34010, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04337-0DOI Listing
August 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

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Hum Mol Genet 2019 06;28(11):1801-1809

Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.

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http://dx.doi.org/10.1093/hmg/ddz017DOI Listing
June 2019

An unusual cause of nephrotic syndrome: Questions.

Pediatr Nephrol 2019 May 7;34(5):817-818. Epub 2018 Nov 7.

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

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http://link.springer.com/10.1007/s00467-018-4113-1
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http://dx.doi.org/10.1007/s00467-018-4113-1DOI Listing
May 2019

An unusual cause of nephrotic syndrome: Answers.

Pediatr Nephrol 2019 May 7;34(5):819-821. Epub 2018 Nov 7.

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

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http://link.springer.com/10.1007/s00467-018-4115-z
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http://dx.doi.org/10.1007/s00467-018-4115-zDOI Listing
May 2019

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.

Bone 2019 03 8;120:495-503. Epub 2018 Dec 8.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183044
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http://dx.doi.org/10.1016/j.bone.2018.12.002DOI Listing
March 2019

Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.

Am J Med Genet A 2019 01 18;179(1):123-129. Epub 2018 Dec 18.

Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.60686DOI 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

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

Teratogenicity of Antiepileptic Drugs.

Clin Psychopharmacol Neurosci 2017 Feb;15(1):19-27

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.9758/cpn.2017.15.1.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290711PMC
February 2017

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization.

Bone Rep 2016 Dec 13;5:86-95. Epub 2016 Apr 13.

Department of Medicine, Division of Endocrinology and Metabolism, Institute for Human Genetics, Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143-0794, USA.

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http://dx.doi.org/10.1016/j.bonr.2016.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926823PMC
December 2016

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

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva.

Pediatr Radiol 2016 Oct 4;46(11):1568-72. Epub 2016 Aug 4.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, Aichi, 466-8550, Japan.

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http://dx.doi.org/10.1007/s00247-016-3662-3DOI Listing
October 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

Ungual squamous cell carcinoma in a patient with Mal de Meleda.

J Dtsch Dermatol Ges 2016 May;14(5):514-6

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

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http://dx.doi.org/10.1111/ddg.12865DOI Listing
May 2016

Unguales Plattenepithelkarzinom bei einem Patienten mit Mal de Meleda.

J Dtsch Dermatol Ges 2016 May;14(5):514-6

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

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http://doi.wiley.com/10.1111/ddg.12865_g
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http://dx.doi.org/10.1111/ddg.12865_gDOI Listing
May 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

Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.

Pediatr Radiol 2015 Jul 3;45(8):1239-43. Epub 2015 Apr 3.

Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchuu-shi, Tokyo, 183-8561, Japan,

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http://dx.doi.org/10.1007/s00247-015-3292-1DOI Listing
July 2015

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

Eur J Hum Genet 2015 Jun 24;23(6):729-35. Epub 2014 Sep 24.

1] Institute for Health Economics and Health Care Management, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany [2] Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Clinical Center, Ludwig Maximilians University, Munich, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795066PMC
June 2015

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Cell 2015 May 7;161(5):1012-1025. Epub 2015 May 7.

Max Planck Institute for Molecular Genetics, RG Development & Disease, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791538PMC
May 2015

Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy.

J Clin Ultrasound 2015 Jan 13;43(1):50-4. Epub 2014 Jan 13.

Department of Obstetrics and Gynecology, Istanbul University Faculty of Medicine, Capa/Fatih, 34090, Istanbul, Turkey.

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http://doi.wiley.com/10.1002/jcu.22121
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http://dx.doi.org/10.1002/jcu.22121DOI Listing
January 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

Am J Med Genet A 2014 Sep 16;164A(9):2398-402. Epub 2014 Jun 16.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36648DOI Listing
September 2014

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Am J Med Genet A 2014 Sep 20;164A(9):2407-11. Epub 2014 Jun 20.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134718PMC
September 2014

Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.

Am J Med Genet A 2014 Aug 22;164A(8):2124-8. Epub 2014 Apr 22.

Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Chiang Mai, Thailand; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Dentaland Clinic, Chiang Mai, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.36579DOI Listing
August 2014

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

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

Am J Med Genet A 2014 Jun 27;164A(6):1443-53. Epub 2014 Mar 27.

Center of Excellence, Chiang Mai University; Craniofacial Genetics Laboratory, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; DENTALAND CLINIC, Chiang Mai, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.36489DOI Listing
June 2014

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

Pediatr Neurol 2014 May 11;50(5):482-90. Epub 2014 Jan 11.

Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.023DOI Listing
May 2014

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

Am J Med Genet A 2014 May 25;164A(5):1322-7. Epub 2014 Mar 25.

Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

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http://doi.wiley.com/10.1002/ajmg.a.36008
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http://dx.doi.org/10.1002/ajmg.a.36008DOI Listing
May 2014

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

Clin Dysmorphol 2014 Apr;23(2):67-70

aInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany bMedical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000035DOI Listing
April 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

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.

J Inherit Metab Dis 2014 Mar 22;37(2):263-8. Epub 2013 Aug 22.

Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand,

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http://doi.wiley.com/10.1007/s10545-013-9645-8
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http://dx.doi.org/10.1007/s10545-013-9645-8DOI Listing
March 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