Publications by authors named "Jan Liebelt"

25Publications

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

J Med Genet 2020 Jul 27;57(7):454-460. Epub 2020 Jan 27.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia

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http://dx.doi.org/10.1136/jmedgenet-2019-106700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7361035PMC
July 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

A Reappraisal of Circulating Fetal Cell Noninvasive Prenatal Testing.

Trends Biotechnol 2019 06 27;37(6):632-644. Epub 2018 Nov 27.

Future Industries Institute and ARC Centre of Excellence in Convergent Bio and Nano Science and Technology, University of South Australia, Mawson Lakes Campus, Mawson Lakes, South Australia, Australia; http://bionanoengineering.com/. Electronic address:

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http://dx.doi.org/10.1016/j.tibtech.2018.11.001DOI Listing
June 2019

Low-Frequency Stimulation of Silent Nociceptors Induces Secondary Mechanical Hyperalgesia in Human Skin.

Neuroscience 2018 09 15;387:4-12. Epub 2018 Mar 15.

Dept. Experimental Pain Research, CBTM, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Medical Faculty Mannheim, Heidelberg University, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neuroscience.2018.03.006DOI Listing
September 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.

2016 May 11;170A(5):1363-6. Epub 2016 Jan 11.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37548DOI Listing
May 2016

Male carrier of haemophilia A.

Pathology 2014 Aug;46(5):467-8

1Haematology Department, Women's and Children's Hospital, North Adelaide 2SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide 3Genetic Pathology Department, SA Pathology, Adelaide, SA, Australia.

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http://dx.doi.org/10.1097/PAT.0000000000000131DOI Listing
August 2014

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Pathology 2014 Jan;46(1):41-5

1Cytogenetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 2Molecular Genetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 3School of Molecular and Biomedical Sciences, The University of Adelaide 4School of Paediatrics and Reproductive Health, The University of Adelaide 5South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide 6Centre for Disability Health, North East Clinic, Modbury Hospital, Adelaide 7Ashford Medical Centre, Ashford, Adelaide 8Flinders Medical Centre, Bedford Park 9Calvary Hospital, North Adelaide 10Women's and Children's Health Network, North Adelaide 11Parks Community Health Service, Angle Park, South Australia, Australia 12see Acknowledgements for all members.

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http://linkinghub.elsevier.com/retrieve/pii/S003130251630641
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http://dx.doi.org/10.1097/PAT.0000000000000043DOI Listing
January 2014

Mitochondrial fatty acid transport enzyme deficiency--implications for in vitro fertilization.

Fertil Steril 2009 Jun 11;91(6):2732.e11-4. Epub 2009 Apr 11.

Research Centre for Reproductive Health, Department of Obstetrics and Gynaecology, University of Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/j.fertnstert.2009.01.104DOI Listing
June 2009

Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth.

Prenat Diagn 2008 Apr;28(4):292-8

Research Centre for Reproductive Health, Discipline of Obstetrics & Gynaecology, School of Paediatrics & Reproductive Health, University of Adelaide, Adelaide 5005, South Australia, Australia.

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http://dx.doi.org/10.1002/pd.1925DOI Listing
April 2008

Singleton births after routine preimplantation genetic diagnosis using exclusion testing (D4S43 and D4S126) for Huntington's disease.

Fertil Steril 2006 Mar;85(3):597-602

Department of Obstetrics and Gynaecology, University of Adelaide, The Queen Elizabeth Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/j.fertnstert.2005.08.050DOI Listing
March 2006