Publications by authors named "Albert Schinzel"

60Publications

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

Mol Syndromol 2017 Aug 13;8(5):266-271. Epub 2017 Jun 13.

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1159/000477189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582502PMC
August 2017

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.

Eur J Hum Genet 2015 Apr 9;23(4):466-72. Epub 2014 Jul 9.

Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1038/ejhg.2014.122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666566PMC
April 2015

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Am J Med Genet A 2013 Sep 2;161A(9):2216-25. Epub 2013 Aug 2.

Institute of Medical Genetics, Department of Pediatrics, University of Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36062DOI Listing
September 2013

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.

Eur J Med Genet 2013 Sep 12;56(9):471-4. Epub 2013 Jul 12.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.010DOI Listing
September 2013

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Am J Med Genet A 2012 Sep 20;158A(9):2239-44. Epub 2012 Jul 20.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1002/ajmg.a.35450DOI Listing
September 2012

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.

Nature 2010 Apr;464(7291):1043-7

Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC15 204A, New York, New York 10032, USA.

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http://dx.doi.org/10.1038/nature08875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046868PMC
April 2010

Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1).

Am J Med Genet A 2010 Apr;152A(4):977-81

Laboratory of Human Genetics, Biology Institute, Federal University of Bahia, Salvador, Bahia, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33322DOI Listing
April 2010

4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

Eur J Hum Genet 2009 Aug 18;17(8):1086-91. Epub 2009 Feb 18.

Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1038/ejhg.2009.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986561PMC
August 2009

Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis.

Acta Paediatr 2008 Nov 22;97(11):1523-8. Epub 2008 Jul 22.

Division of Cardiology, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1111/j.1651-2227.2008.00957.xDOI Listing
November 2008

Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote.

Prenat Diagn 2008 Aug;28(8):759-63

Division of Obstetrics, Department of Obstetrics and Gynaecology, University Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/pd.2031DOI Listing
August 2008

Chromosomal map of human brain malformations.

Hum Genet 2008 Aug 18;124(1):73-80. Epub 2008 Jun 18.

Institute of Medical Genetics, University of Zurich, 8603, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1007/s00439-008-0528-2DOI Listing
August 2008

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Eur J Med Genet 2008 Mar-Apr;51(2):113-23. Epub 2008 Jan 4.

Institute of Medical Genetics, University of Zürich, Schorenstrasse 16, 8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.005DOI Listing
June 2008

Characterization of interstitial Xp duplications in two families by tiling path array CGH.

Am J Med Genet A 2008 Jan;146A(2):197-203

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32070DOI Listing
January 2008

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review.

Am J Med Genet A 2007 Feb;143(4):399-408

Institute of Medical Genetics, University of Zürich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31605DOI Listing
February 2007

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.

Eur J Med Genet 2007 Mar-Apr;50(2):128-32. Epub 2006 Nov 10.

Institute of Medical Genetics, University of Zurich, Zurich, Schorenstrasse 16, CH-8603, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1016/j.ejmg.2006.10.008DOI Listing
May 2007

Trisomy 18: changes in sex ratio during intrauterine life.

Am J Med Genet A 2006 Nov;140(21):2365-7

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31474DOI Listing
November 2006

Pre- and postnatal findings in trisomy 17 mosaicism.

Am J Med Genet A 2006 Aug;140(15):1628-36

Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1002/ajmg.a.31319DOI Listing
August 2006

Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

Audiol Neurootol 2006 23;11(5):269-75. Epub 2006 May 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex. 77030, USA.

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http://dx.doi.org/10.1159/000093525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923580PMC
January 2007

Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations.

Prenat Diagn 2006 Mar;26(3):221-5

Institute of Medical Genetics, University of Zürich, Switzerland.

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http://dx.doi.org/10.1002/pd.1383DOI Listing
March 2006

Angelman syndrome 2005: updated consensus for diagnostic criteria.

Am J Med Genet A 2006 Mar;140(5):413-8

Department of Pediatrics, Division of Genetics, R.C. Philips Unit, University of Florida, Gainesville, Florida 32610, USA.

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http://dx.doi.org/10.1002/ajmg.a.31074DOI Listing
March 2006

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

Eur J Med Genet 2005 Jul-Sep;48(3):319-27

Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.018DOI Listing
November 2005

An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal.

Am J Med Genet A 2005 May;135(1):86-90

Institute of Medical Genetics, University of Zürich, Schorenstrasse 16, CH-8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.30683DOI Listing
May 2005

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Eur J Hum Genet 2005 Mar;13(3):273-7

Institute of Medical Genetics, University of Zurich, Switzerland.

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http://dx.doi.org/10.1038/sj.ejhg.5201337DOI Listing
March 2005

Natural history of twin disruption sequence.

Am J Med Genet A 2004 Jun;127A(2):133-8

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.20680DOI Listing
June 2004

Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?

Am J Med Genet A 2004 May;127A(1):74-80

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.20646DOI Listing
May 2004

Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

Eur J Hum Genet 2004 May;12(5):411-4

Institute of Medical Genetics, Russian Academy of Medical Sciences, Tomsk, Russia.

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http://www.nature.com/articles/5201168
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http://dx.doi.org/10.1038/sj.ejhg.5201168DOI Listing
May 2004

Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?

Eur Neurol 2004 16;51(2):72-7. Epub 2004 Jan 16.

Department of Neurosurgery, University Hospital Zürich, Frauenklinikstrasse 10, CH-8091 Zürich, Switzerland.

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http://dx.doi.org/10.1159/000076248DOI Listing
May 2004

Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation.

Am J Med Genet A 2003 Jul;120A(2):247-52

Department of Genetics, School of Medicine of Ribeirão Preto, São Paulo University, Ribeirão Preto, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.10004DOI Listing
July 2003

Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?

Am J Med Genet A 2003 May;118A(4):358-61

Institute of Medical Genetics, University of Zurich, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.20069
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.20069DOI Listing
May 2003

Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient.

Am J Med Genet A 2003 Apr;118A(1):55-9

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.10233DOI Listing
April 2003

Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996.

Swiss Med Wkly 2002 Aug;132(33-34):478-84

Institute of Medical Genetics, University of Zurich, Switzerland.

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http://dx.doi.org/2002/33/smw-10009DOI Listing
August 2002

Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years.

Am J Med Genet 2002 Sep;111(4):388-91

Institute of Medical Genetics, University of Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.10472DOI Listing
September 2002

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

Am J Med Genet 2002 Jul;111(1):76-80

Institute of Medical Genetics, University of Zürich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.10534DOI Listing
July 2002