Sheila Unger

Sheila Unger

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Sheila Unger

Sheila Unger

Publications by authors named "Sheila Unger"

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Nosology and classification of genetic skeletal disorders: 2019 revision.

Am J Med Genet A 2019 Dec 21;179(12):2393-2419. Epub 2019 Oct 21.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61366DOI Listing
December 2019

[Abecedary of colonic polyps].

Rev Med Suisse 2019 Aug;15(660):1483-1487

Service de gastroentérologie et d'hépatologie, CHUV et Université de Lausanne, 1011 Lausanne.

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August 2019

[Alagille Syndrome].

Rev Med Suisse 2019 Aug;15(660):1506-1510

Service de gastroentérologie et d'hépatologie, CHUV, Université de Lausanne, 1011 Lausanne.

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August 2019

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.

Am J Med Genet A 2018 12 4;176(12):2934-2935. Epub 2018 Oct 4.

Division of Genetic Medicine, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.40631
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http://dx.doi.org/10.1002/ajmg.a.40631DOI Listing
December 2018

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

Clin Dysmorphol 2018 Jul;27(3):105-108

Department of Pediatrics, University of Lausanne and Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1097/MCD.0000000000000218DOI Listing
July 2018

Genetic disorders of bone - An historical perspective.

Bone 2017 09 27;102:1-4. Epub 2017 Jul 27.

Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.07.025DOI Listing
September 2017

Current Care and Investigational Therapies in Achondroplasia.

Curr Osteoporos Rep 2017 04;15(2):53-60

Institute de Biologie Valrose, University. Nice Sophia Antipolis, Batiment Sciences Naturelles; UFR Sciences, Parc Valrose, 28 avenue Valrose, 06108, Nice, Cedex 2, France.

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http://link.springer.com/10.1007/s11914-017-0347-2
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http://dx.doi.org/10.1007/s11914-017-0347-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435778PMC
April 2017

[Genomic medicine : the challenges of information in clinical practice].

Rev Med Suisse 2016 Nov;12(537):1838-1844

PMU, Université de Lausanne, 1011 Lausanne.

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November 2016

Sojourner in a foreign land.

Authors:
Sheila Unger

Am J Med Genet A 2016 Oct 13;170(10):2594-5. Epub 2016 May 13.

Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.37738DOI Listing
October 2016

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Eur J Pediatr 2016 Oct 25;175(10):1307-15. Epub 2016 Aug 25.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1007/s00431-016-2761-3DOI Listing
October 2016

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Am J Med Genet A 2016 06 7;170(6):1626-9. Epub 2016 Apr 7.

Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.37645DOI Listing
June 2016

[BRCA mutations: from Angelina Jolie to specific therapies].

Rev Med Suisse 2016 May;12(519):973-4, 976-7

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May 2016

Stuve-Wiedemann syndrome with a novel mutation.

BMJ Case Rep 2015 Aug 30;2015. Epub 2015 Aug 30.

Department of Child Health, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1136/bcr-2015-212032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693133PMC
August 2015

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

Ann Rheum Dis 2015 Jun 17;74(6):1249-56. Epub 2014 Jan 17.

Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2013-204309DOI Listing
June 2015

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Am J Med Genet A 2014 Oct 5;164A(10):2667-71. Epub 2014 Aug 5.

Unit of Pediatric Genetics Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey; Division of Molecular Pediatrics Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36692DOI Listing
October 2014

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

Am J Med Genet A 2014 Sep 26;164A(9):2147-52. Epub 2014 Jun 26.

Department of Pediatrics, Section of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.36632
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http://dx.doi.org/10.1002/ajmg.a.36632DOI Listing
September 2014

Acampomelic form of campomelic dysplasia with SOX9 missense mutation.

Indian J Pediatr 2014 Jan 7;81(1):98-100. Epub 2013 Apr 7.

Department of Pediatrics and Neonatology, Amrita Institute of Medical Sciences and Researh Centre, Cochin, Kerala, India.

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http://dx.doi.org/10.1007/s12098-013-1007-xDOI Listing
January 2014

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Am J Med Genet A 2013 Dec 16;161A(12):3161-5. Epub 2013 Aug 16.

Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36173DOI Listing
December 2013

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.

Prenat Diagn 2013 Nov 4;33(11):1039-43. Epub 2013 Aug 4.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynaecology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/pd.4193DOI Listing
November 2013

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome.

Proc Natl Acad Sci U S A 2013 Nov 11;110(48):19525-30. Epub 2013 Nov 11.

P2I2 Group, Protein Phosphorylation and Human Disease Unit, Station Biologique, Centre National de la Recherche Scientifique (CNRS), Unité de Service et de Recherche USR3151, 29680 Roscoff, France.

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http://dx.doi.org/10.1073/pnas.1306814110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3845122PMC
November 2013

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Am J Med Genet A 2013 Jul 21;161A(7):1750-4. Epub 2013 May 21.

Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35964DOI Listing
July 2013

TRPV4-associated skeletal dysplasias.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):190-204. Epub 2012 Jul 12.

Génétique Médicale, CHUV, Av. Decker 2, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.c.31335DOI Listing
August 2012

New topics in the skeletal dysplasias.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):143-4. Epub 2012 Jul 12.

Department of Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.c.31338DOI Listing
August 2012

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Am J Med Genet A 2012 Jun 11;158A(6):1344-54. Epub 2012 May 11.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35339DOI Listing
June 2012

Clinical and radiological findings in Pallister-Killian syndrome.

Eur J Med Genet 2012 Mar 10;55(3):167-72. Epub 2012 Feb 10.

Genetics Service, Department of Paediatric Medicine, KK Hospital, Singapore.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.019DOI Listing
March 2012

[New therapies for children affected by bone diseases].

Rev Med Suisse 2012 Feb;8(329):398-402

Division de pédiatrie moléculaire, CHUV et Université de Lausanne, 1011 Lausanne.

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February 2012

Nosology and classification of genetic skeletal disorders: 2010 revision.

Am J Med Genet A 2011 May 15;155A(5):943-68. Epub 2011 Mar 15.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781PMC
May 2011

A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death.

Cardiol Young 2011 Feb 16;21(1):62-5. Epub 2010 Nov 16.

Department of Pediatric Cardiology, University Hospital of Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1017/S1047951110001563DOI Listing
February 2011

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.

Eur J Med Genet 2010 Sep-Oct;53(5):294-8. Epub 2010 Jun 11.

Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.005DOI Listing
January 2011

TRPV4-pathy, a novel channelopathy affecting diverse systems.

J Hum Genet 2010 Jul 27;55(7):400-2. Epub 2010 May 27.

Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2010.37DOI Listing
July 2010

Fetal MR imaging of atelosteogenesis type II (AO-II).

Pediatr Radiol 2008 Dec 21;38(12):1345-9. Epub 2008 Aug 21.

Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave., Toronto M5G 1X8, Canada.

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http://dx.doi.org/10.1007/s00247-008-0974-yDOI Listing
December 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

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Best Pract Res Clin Rheumatol 2008 Mar;22(1):19-32

Department of Paediatrics and Institute of Human Genetics, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.berh.2007.11.009DOI Listing
March 2008

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

Am J Med Genet A 2007 Dec;143A(24):3280-5

The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.32022
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http://dx.doi.org/10.1002/ajmg.a.32022DOI Listing
December 2007

Filamin A mutation is one cause of FG syndrome.

Am J Med Genet A 2007 Aug;143A(16):1876-9

Institute for Human Genetics, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31751DOI Listing
August 2007

Nosology and classification of genetic skeletal disorders: 2006 revision.

Am J Med Genet A 2007 Jan;143A(1):1-18

Center for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg, Freiburg, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.31483
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http://dx.doi.org/10.1002/ajmg.a.31483DOI Listing
January 2007

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.

Am J Med Genet A 2007 Jan;143A(2):161-7

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

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http://dx.doi.org/10.1002/ajmg.a.31516DOI Listing
January 2007

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.

Prenat Diagn 2006 Dec;26(13):1235-40

Department of Medical Imaging, Women's College Campus, Sunnybrook and Women's Health Sciences Center, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/pd.1594DOI Listing
December 2006

Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.

Am J Med Genet A 2006 Apr;140(7):769-74

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31150DOI Listing
April 2006