Kaya Bilguvar

Kaya Bilguvar

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Kaya Bilguvar

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Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.

Clin Genet 2019 Aug 6. Epub 2019 Aug 6.

Center for Human Genetics and Dept. Ob/Gyn, Tufts University School of Medicine, Boston, Massachusetts.

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http://dx.doi.org/10.1111/cge.13617DOI Listing
August 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Clonal evolution analysis of paired anaplastic and well-differentiated thyroid carcinomas reveals shared common ancestor.

Genes Chromosomes Cancer 2018 12 24;57(12):645-652. Epub 2018 Sep 24.

Yale Endocrine Neoplasia Laboratory, Yale School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1002/gcc.22678DOI Listing
December 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Homozygous mutations causing a spastic-ataxia phenotype in 2 families.

Neurol Genet 2018 Feb 18;4(1):e218. Epub 2018 Jan 18.

Suna and Inan Kirac Foundation (C.K., A.G., A.N.B.), Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Bogazici University, Istanbul, Turkey; Department of Neurology (G. Kocaman), Medical Faculty, Bezmialem Vakif University, Turkey; Department of Neurology (P.K.-K., K.U.), Faculty of Medicine, Marmara University, Istanbul, Turkey; Department of Neurology (G. Kiziltan), Cerrahpasa Faculty of Medicine, Istanbul University, Turkey; Department of Medical Genetics (A.O.C.), School of Medicine, Istanbul Bilim University, Turkey; Yale Program on Neurogenetics (A.O.C.), Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, CT; Department of Genetics (K.B.), Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT; and Department of Neurology (A.V.), Koc University Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1212/NXG.0000000000000218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773845PMC
February 2018

gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1101/mcs.a001859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593152PMC
September 2017

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.

J Neurosurg 2017 Jun 9;126(6):1879-1883. Epub 2016 Sep 9.

Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.3171/2016.6.JNS16665DOI Listing
June 2017

Digenic mutations of human paralogs in Dent's disease type 2 associated with Chiari I malformation.

Hum Genome Var 2016 8;3:16042. Epub 2016 Dec 8.

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1038/hgv.2016.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143364PMC
December 2016

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Proc Natl Acad Sci U S A 2016 10 19;113(40):11289-11293. Epub 2016 Sep 19.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06517; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06517; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06517; Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06517; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065

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http://dx.doi.org/10.1073/pnas.1613228113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056113PMC
October 2016

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Cold Spring Harb Mol Case Stud 2016 Sep;2(5):a001008

Developmental Neuropsychiatry Research Program, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/mcs.a001008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002930PMC
September 2016

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30276-2.pdf
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http://www.cell.com/cms/attachment/2062243761/2063920621/mmc
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http://dx.doi.org/10.1016/j.ajhg.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974110PMC
August 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

J Hum Genet 2016 May 7;61(5):395-403. Epub 2016 Jan 7.

Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1038/jhg.2015.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880488PMC
May 2016

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

Am J Med Genet A 2016 May 8;170A(5):1187-95. Epub 2016 Jan 8.

Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1002/ajmg.a.37543DOI Listing
May 2016

Absence of KMT2D/MLL2 mutations in abdominal paraganglioma.

Clin Endocrinol (Oxf) 2016 Apr 22;84(4):632-4. Epub 2015 Sep 22.

Yale Endocrine Neoplasia Laboratory, Yale School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1111/cen.12884DOI Listing
April 2016

Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma.

Proc Natl Acad Sci U S A 2016 Feb 10;113(8):2170-5. Epub 2016 Feb 10.

Department of Pathology, University of California, Los Angeles School of Medicine, Los Angeles, CA 90095;

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http://dx.doi.org/10.1073/pnas.1525735113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776463PMC
February 2016

Functional synergy between cholecystokinin receptors CCKAR and CCKBR in mammalian brain development.

PLoS One 2015 15;10(4):e0124295. Epub 2015 Apr 15.

Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, United States of America; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut, United States of America; Department of Neurobiology, Yale School of Medicine, New Haven, Connecticut, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0124295PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398320PMC
January 2016

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.

Neuropediatrics 2015 Dec 19;46(6):420-3. Epub 2015 Oct 19.

Departments of Neurosurgery, Neurobiology and Genetics, School of Medicine, Yale University, New Haven, United States.

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http://dx.doi.org/10.1055/s-0035-1565275DOI Listing
December 2015

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

Eur J Paediatr Neurol 2015 Nov 9;19(6):743-6. Epub 2015 Jul 9.

Department of Neurosurgery, Yale School of Medicine, New Haven, USA; Department of Neurobiology, Yale School of Medicine, New Haven, USA; Department of Genetics, Yale School of Medicine, New Haven, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.06.003DOI Listing
November 2015

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

Neuro Oncol 2015 Oct 3;17(10):1356-64. Epub 2015 Mar 3.

Department of Neurosurgery, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, Connecticut (E.Z.E.-O., A.O.Ç., S.B.O., A.S.H., V.C., G.C.-G., J.B., C.Ç., T.B., S.C., B.B., M.B., J.M.G., K.M.-G., K.B., K.Y., M.G.); Department of Genetics, Yale School of Medicine, New Haven, Connecticut (K.B., M.G.); Computational Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York (N.S., N.W., C.S.); Department of Neurosurgery, Acıbadem University School of Medicine, Istanbul, Turkey (K.O., M.N.P.); Division of Hematology and Oncology, Faculty of Medicine, Department of Pediatrics, Selçuk University, Konya, Turkey (Y.K., D.K.); Department of Pathology, Yale School of Medicine, New Haven, Connecticut (J.L., J.S., A.V., A.J.H.).

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http://dx.doi.org/10.1093/neuonc/nov027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578578PMC
October 2015

Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum.

J Invest Dermatol 2015 Oct 7;135(10):2536-2538. Epub 2015 May 7.

Department of Genetics, Yale University, New Haven, Connecticut, USA; Department of Pathology, Yale University, New Haven, Connecticut, USA; Department of Dermatology, Yale University, New Haven, Connecticut, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567902PMC
October 2015

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2015 9;5:306. Epub 2015 Jul 9.

Division of Medical Genetics, Sanford Children's Hospital, Sioux Falls, SD, USA ; Sanford Children's Health Research Center, Sanford Research Sioux Falls, SD, USA ; Sanford Neurogenetics & Neurometabolic Disorders Clinic and Pediatric Movement Disorders Clinic, Division of Pediatric Neurology, Sanford Children's Specialty Clinic Sioux Falls, SD, USA ; Departments of Pediatrics & Neurosciences, Sanford College of Medicine, University of South Dakota, Vermillion, SD, USA ; Department of Chemistry & Biochemistry, South Dakota State University, Brookings, SD, USA ; University of Arizona College of Medicine, Department of Child Health, Phoenix, AZ ; Barrow Neurological Institute and Ronald A. Matricaria Institute for Molecular Medicine, Phoenix Children's Hospital, Phoenix, AZ.

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http://dx.doi.org/10.7916/D8D21WQ0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502426PMC
July 2015

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.

J Invest Dermatol 2015 Jun 14;135(6):1540-1547. Epub 2014 Nov 14.

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430428PMC
June 2015

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Nat Genet 2015 May 13;47(5):512-7. Epub 2015 Apr 13.

1] Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA. [2] Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1038/ng.3278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414891PMC
May 2015

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.

Pediatr Radiol 2015 Apr 26;45(5):771-6. Epub 2014 Sep 26.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Cerrahpaşa Tıp Fakültesi, Çocuk kliniği, Cerrahpaşa, Istanbul, Turkey,

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http://link.springer.com/content/pdf/10.1007/s00247-014-3159
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http://link.springer.com/10.1007/s00247-014-3159-x
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http://dx.doi.org/10.1007/s00247-014-3159-xDOI Listing
April 2015

Vascular endothelial growth factor receptor 3 controls neural stem cell activation in mice and humans.

Cell Rep 2015 Feb 19;10(7):1158-72. Epub 2015 Feb 19.

Université Pierre and Marie Curie-Paris 6, Groupe Hospitalier Pitié-Salpètrière, 75013 Paris, France; INSERM/CNRS U-1127/UMR-7225, Groupe Hospitalier Pitié-Salpètrière, 75013 Paris, France; APHP, Groupe Hospitalier Pitié-Salpètrière, 75013 Paris, France; Department of Neurology, Yale University School of Medicine, New Haven, CT 06510-3221, USA. Electronic address:

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http://www.cell.com/cell-reports/pdf/S2211-1247(15)00074-1.p
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http://genesdev.cshlp.org/content/25/8/831.full.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S221112471500074
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http://dx.doi.org/10.1016/j.celrep.2015.01.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4685253PMC
February 2015

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

Eur J Med Genet 2015 Jan 9;58(1):39-43. Epub 2014 Sep 9.

Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804755PMC
January 2015

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

Rheumatol Int 2014 Nov 12;34(11):1539-44. Epub 2014 May 12.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey,

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http://dx.doi.org/10.1007/s00296-014-3037-8DOI Listing
November 2014

Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.

J Hepatol 2014 Nov 10;61(5):1178-83. Epub 2014 Jul 10.

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, United States; Department of Neurosurgery, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT 06510, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2014.07.003DOI Listing
November 2014

FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.

Parkinsonism Relat Disord 2014 Nov 14;20(11):1253-6. Epub 2014 Aug 14.

İstanbul University, Cerrahpaşa School of Medicine, Department of Neurology, 34098, K.M.Paşa, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.parkreldis.2014.07.016DOI Listing
November 2014

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

Am J Med Genet A 2014 Jul 3;164A(7):1677-85. Epub 2014 Apr 3.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36514DOI Listing
July 2014

Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk.

Nat Commun 2014 Mar 26;5:3543. Epub 2014 Mar 26.

1] Department of Genetics, Yale Stem Cell Center, Yale Cancer Center, Yale School of Medicine, New Haven, Connecticut 06510, USA [2] Department of Dermatology, Yale School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1038/ncomms4543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974217PMC
March 2014

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.

Am J Med Genet A 2013 Jun 30;161A(6):1300-8. Epub 2013 Apr 30.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.35906DOI Listing
June 2013

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neuron 2011 Jun;70(5):863-85

Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065PMC
June 2011

Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).

J Child Neurol 2010 Oct 28;25(10):1265-8. Epub 2010 Jan 28.

Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1177/0883073809357241DOI Listing
October 2010

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Neurogenetics 2010 Jul 15;11(3):319-25. Epub 2010 Jan 15.

Department of Neurosurgery, Neurobiology, Program on Neurogenetics Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1007/s10048-009-0232-yDOI Listing
July 2010

Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury.

J Clin Neurosci 2008 Oct 24;15(10):1130-6. Epub 2008 Jul 24.

Department of Neurosurgery, Taksim Education and Research Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.jocn.2007.08.011DOI Listing
October 2008

Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats.

Surg Neurol 2008 Jun 8;69(6):561-7. Epub 2008 Feb 8.

Clinic of Neurosurgery, Taksim Education and Research Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.surneu.2007.03.041DOI Listing
June 2008

Therapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury.

J Clin Neurosci 2008 Jun 2;15(6):672-8. Epub 2008 Apr 2.

Department of Neurosurgery, Taksim Education and Research Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.jocn.2007.06.014DOI Listing
June 2008

Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts.

Am J Med Genet A 2007 Apr;143A(7):672-7

Department of Neurosurgery, Dicle University, Diyarbakir, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.31640DOI Listing
April 2007

Genetics of intracranial aneurysms.

Neurosurgery 2007 Feb;60(2):213-25; discussion 225-6

Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1227/01.NEU.0000249270.18698.BBDOI Listing
February 2007

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

Neurosurgery 2005 Nov;57(5):1008-13

Yale Neurovascular Surgery Program, Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1227/01.neu.0000180811.56157.e1DOI Listing
November 2005