Bernd Wollnik

Bernd Wollnik

UNVERIFIED PROFILE

Are you Bernd Wollnik?   Register this Author

Register author
Bernd Wollnik

Bernd Wollnik

Publications by authors named "Bernd Wollnik"

Are you Bernd Wollnik?   Register this Author

99Publications

3963Reads

22Profile Views

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

HACE1 deficiency leads to structural and functional neurodevelopmental defects.

Neurol Genet 2019 Jun 29;5(3):e330. Epub 2019 Apr 29.

IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC-Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center for Cardiovascular Research (DZHK e.V.) (F.J.K.), Partner Site Hamburg/Kiel/Lübeck, Lübeck; Institute of Cellular Neurosciences (M.K.H., C.H.), University of Bonn Medical School, Germany; Centre for Neuroendocrinology (M.K.H.), Department of Physiology, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand; Department of Neurophysiology and Neuropharmacology (A.C., F.J.M.Q.), Center for Physiology and Pharmacology, Medical University of Vienna, Austria; Drug Safety and Metabolism (R.N.), IMED Biotech Unit, AstraZeneca, Gothenburg, Sweden; Division of Genetics and the Roberts Individualized Medical Genetics Center (M.A.D., E.C.B.), Children's Hospital of Philadelphia, PA; Departments of Pediatrics (M.A.D.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Institute of Human Genetics (Y.L., G.Y., B.W.), University Medical Center Göttingen, Germany; Institute of Neurology (C.H.), University College London, UK; German Center for Neurodegenerative Diseases (DZNE) (C.H.), Bonn, Germany; Zentrum für Kinder- und Jugendmedizin (G.C.K.), Neuropädiatrie, Klinikum Oldenburg, Germany; Department of Medical Genetics (E.F.P.), Faculty of Medicine, Gazi University, Ankara, Turkey; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (P.B., J.M.), Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561753PMC
June 2019

Homozygosity for the c.428delG variant in in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

J Med Genet 2019 Apr 17;56(4):261-264. Epub 2018 Aug 17.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105470
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2018-105470DOI Listing
April 2019

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ.

Neurol Genet 2019 Apr 25;5(2):e320. Epub 2019 Mar 25.

Department of Genome Dynamics (I.K., H.H., K.W.C.), Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic; Genome Damage and Stability Centre (H.H., K.W.C.), School of Life Sciences, University of Sussex, Falmer, Brighton, UK; Institute of Human Genetics (Y.L., B.W., G.Y.), University Medical Center Göttingen, Germany; Cologne Center for Genomics (J.A.), University of Cologne, Germany; Institute of Cancer and Genomic Sciences (J.J.R., G.S.S.), College of Medical and Dental Sciences, University of Birmingham, UK; and Division of Genetics (N.G.), Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454307PMC
April 2019

Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome.

Am J Med Genet C Semin Med Genet 2018 12;178(4):398-406

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.c.31668
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.31668DOI Listing
December 2018

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders.

Front Mol Neurosci 2018 3;11:252. Epub 2018 Aug 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnmol.2018.00252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085491PMC
August 2018

Genetic determinants of heart failure: facts and numbers.

ESC Heart Fail 2018 06 19;5(3):211-217. Epub 2018 Feb 19.

Department of Cardiology and Pulmonary Medicine, University Medical Center Göttingen, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ehf2.12267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933969PMC
June 2018

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Clin Genet 2017 09 30;92(3):342-343. Epub 2017 Mar 30.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.12990DOI Listing
September 2017

Novel compound heterozygous mutations in in a patient with severe expression of You-Hoover-Fong syndrome.

Mol Genet Genomic Med 2017 Sep 28;5(5):580-584. Epub 2017 Jul 28.

Institute of Human GeneticsUniversity Medical Center GöttingenGöttingenGermany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mgg3.287
Publisher Site
http://dx.doi.org/10.1002/mgg3.287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606883PMC
September 2017

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

Hum Mol Genet 2017 08;26(15):2923-2932

Department of Pharmacology and Toxicology Center for Molecular Biosciences, University of Innsbruck, 6020 Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddx175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886262PMC
August 2017

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Am J Med Genet A 2017 Jul 26;173(7):1763-1772. Epub 2017 Apr 26.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38246DOI Listing
July 2017

[Genetic diagnostics for cardiomyopathies].

Dtsch Med Wochenschr 2017 May 28;142(9):657-664. Epub 2017 Apr 28.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0042-112183DOI Listing
May 2017

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

Am J Med Genet A 2017 Jan 18;173(1):264-267. Epub 2016 Oct 18.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37999
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37999DOI Listing
January 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.

View Article

Download full-text PDF

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

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

Am J Med Genet A 2016 09 29;170(9):2436-9. Epub 2016 Jun 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37823DOI Listing
September 2016

Altered FGF signalling in congenital craniofacial and skeletal disorders.

Semin Cell Dev Biol 2016 05 11;53:115-25. Epub 2015 Dec 11.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semcdb.2015.12.005DOI Listing
May 2016

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

Am J Med Genet A 2016 May 21;170A(5):1295-301. Epub 2016 Jan 21.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37570DOI Listing
May 2016

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.

View Article

Download full-text PDF

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

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

Hum Mol Genet 2015 Jul 3;24(13):3708-17. Epub 2015 Apr 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv115DOI Listing
July 2015

CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Hum Mol Genet 2015 Apr 5;24(8):2267-73. Epub 2015 Jan 5.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380072PMC
April 2015

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2015 Apr 3;167A(4):919-21. Epub 2015 Mar 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36955DOI Listing
April 2015

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Am J Hum Genet 2014 Nov 6;95(5):622-32. Epub 2014 Nov 6.

Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225581PMC
November 2014

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Hum Mol Genet 2014 Aug 4;23(16):4396-405. Epub 2014 Apr 4.

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/23/16/4396.full.pdf
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu156
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu156DOI Listing
August 2014

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

Hum Genet 2013 Nov 13;132(11):1311-20. Epub 2013 Jul 13.

Institute of Human Genetics, University Medical Faculty, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-013-1337-9DOI Listing
November 2013

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.

View Article

Download full-text PDF

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

Activating somatic FGFR2 mutations in breast cancer.

PLoS One 2013 20;8(3):e60264. Epub 2013 Mar 20.

Institute of Human Genetics, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060264PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603931PMC
September 2013

Severe Cenani-Lenz syndrome caused by loss of LRP4 function.

Am J Med Genet A 2013 Jun 1;161A(6):1475-9. Epub 2013 May 1.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35920DOI Listing
June 2013

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.

J Clin Res Pediatr Endocrinol 2009 2;1(3):116-28. Epub 2009 Feb 2.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4008/jcrpe.v1i3.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005650PMC
December 2011

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Hum Genet 2011 Jan 22;129(1):45-50. Epub 2010 Oct 22.

Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-010-0896-2DOI Listing
January 2011

A common mechanism for microcephaly.

Authors:
Bernd Wollnik

Nat Genet 2010 Nov;42(11):923-4

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1110-923DOI Listing
November 2010

Congenital absence of salivary and lacrimal glands accompanied by growth and development retardation.

J Pediatr Ophthalmol Strabismus 2010 May 21;47 Online:e1-3. Epub 2010 May 21.

Department of Pediatrics, Gülhane Military Medical Academy & Medical School, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/01913913-20100324-07DOI Listing
May 2010

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Hum Mutat 2009 Dec;30(12):1667-75

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid and CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21117DOI Listing
December 2009

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.

View Article

Download full-text PDF

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

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.

Arch Dermatol Res 2009 Jun 27;301(5):391-3. Epub 2008 Sep 27.

Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Rambam Health Care Campus, POB 9602, 31096, Haifa, Israel.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s00403-008-0903
Web Search
http://link.springer.com/10.1007/s00403-008-0903-9
Publisher Site
http://dx.doi.org/10.1007/s00403-008-0903-9DOI Listing
June 2009

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.

J Neurol 2009 Mar 14;256(3):416-9. Epub 2009 Mar 14.

Ege University, Faculty of Medicine, Dept. of Pediatrics, Divison of Genetics, 35100, Bornova, Izmir, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-009-0094-0DOI Listing
March 2009

Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor.

Anadolu Kardiyol Derg 2008 Oct 16;8(5):E35-6. Epub 2008 Oct 16.

Department of Cardiology, Ege University School of Medicine, Izmir, Turkey.

View Article

Download full-text PDF

Source
October 2008

Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.

Proc Natl Acad Sci U S A 2007 Dec 3;104(50):19802-7. Epub 2007 Dec 3.

Department of Pharmacology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.

View Article

Download full-text PDF

Source
http://www.pnas.org/cgi/doi/10.1073/pnas.0709905104
Publisher Site
http://dx.doi.org/10.1073/pnas.0709905104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2148379PMC
December 2007

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

Mol Vis 2007 Oct 2;13:1862-5. Epub 2007 Oct 2.

Department of Genetics, Institute Pasteur du Maroc, Casablanca, Morocco.

View Article

Download full-text PDF

Source
October 2007

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region.

Am J Med Genet A 2007 Jun;143A(12):1308-12

Genetic Disorders Unit, Department of Pediatrics, Marmara University Medical Faculty, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31766
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31766DOI Listing
June 2007