Publications by authors named "Gerard Pals"

79Publications

Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva.

JBMR Plus 2020 Jun 28;4(6):e10363. Epub 2020 Apr 28.

Department of Internal Medicine section Endocrinology, Amsterdam Bone Center Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences Amsterdam The Netherlands.

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http://dx.doi.org/10.1002/jbm4.10363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285757PMC
June 2020

Mechanical stress regulates bone regulatory gene expression independent of estrogen and vitamin D deficiency in rats.

J Orthop Res 2020 Jun 12. Epub 2020 Jun 12.

Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jor.24775DOI Listing
June 2020

An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.

Biochem Biophys Res Commun 2020 01 24;521(2):310-317. Epub 2019 Oct 24.

Department of Orthopedic Surgery, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Aachen-Maastricht Institute for Biobased Materials, Faculty of Science and Engineering, Maastricht University, Geleen, the Netherlands; Department of Biohybrid & Medical Textiles (Biotex), RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1016/j.bbrc.2019.09.081DOI Listing
January 2020

Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.

Mol Genet Genomic Med 2019 10 1;7(10):e00943. Epub 2019 Sep 1.

Department of Clinical Genetics, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785444PMC
October 2019

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

Mol Genet Genomic Med 2019 08 17;7(8):e823. Epub 2019 Jun 17.

Department of Clinical Genetics, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687637PMC
August 2019

Evolution of heterotopic bone in fibrodysplasia ossificans progressiva: An [F]NaF PET/CT study.

Bone 2019 07 8;124:1-6. Epub 2019 Mar 8.

Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Internal Medicine Section Endocrinology, Amsterdam Bone Center, Amsterdam Movement Sciences, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.03.009DOI Listing
July 2019

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

Hum Mutat 2018 05 9;39(5):653-665. Epub 2018 Mar 9.

Department of Clinical Genetics, VU University Medical Center, Amsterdam Movement Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23403DOI Listing
May 2018

Betaglycan (TGFBR3) up-regulation correlates with increased TGF-β signaling in Marfan patient fibroblasts in vitro.

Cardiovasc Pathol 2018 Jan - Feb;32:44-49. Epub 2017 Nov 4.

Department of Vascular Surgery, Amsterdam Cardiovascular Sciences, VU University Medical Center, Amsterdam, The Netherlands; Department of Physiology, Amsterdam Cardiovascular Sciences, VU University Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.carpath.2017.10.003DOI Listing
August 2018

Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome.

Heart 2017 11 3;103(22):1795-1799. Epub 2017 May 3.

Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Autònoma de Barcelona, CIBERCV, Barcelona, Spain.

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http://dx.doi.org/10.1136/heartjnl-2016-310631DOI Listing
November 2017

Genotype impacts survival in Marfan syndrome.

Eur Heart J 2016 Nov 18;37(43):3285-3290. Epub 2016 Jan 18.

Department of Cardiology, Academic Medical Center Amsterdam, B2-240, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands

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http://dx.doi.org/10.1093/eurheartj/ehv739DOI Listing
November 2016

Inhibition of TGFβ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease.

Bone 2016 Mar 6;84:169-180. Epub 2016 Jan 6.

Department of Clinical Chemistry, VU University Medical Center, MOVE Research Institute, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.01.004DOI Listing
March 2016

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22854DOI Listing
December 2015

[Loeys-Dietz syndrome: aortic dissections and aneurysms].

Ned Tijdschr Geneeskd 2015 ;159:A8342

VUmc, Amsterdam.

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December 2015

The risk for type B aortic dissection in Marfan syndrome.

J Am Coll Cardiol 2015 Jan;65(3):246-54

Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands; Interuniversity Cardiology Institute of the Netherlands, Utrecht, the Netherlands; Department of Radiology, Academic Medical Center, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2014.10.050DOI Listing
January 2015

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.

Circ Cardiovasc Genet 2015 Apr 22;8(2):383-8. Epub 2015 Jan 22.

From the Departments of Cardiology (R.F., A.W.d.H., M.G., B.J.M.M.), Radiology (M.G.), Clinical Epidemiology and Biostatistics (A.H.Z.), and Medical Biochemistry (V.d.W.), Academic Medical Center Amsterdam, Amsterdam; Interuniversity Cardiology Institute of the Netherlands, Utrecht (R.F., A.W.d.H., M.G., B.J.M.M.); Departments of Pathology (T.R.) and Clinical Genetics (D.M., A.M., F.S.v.D., H.E.M.-H., G.P.), VU University Medical Center, Amsterdam; Department of Cardiology, Radboud University Nijmegen Medical Center, Nijmegen (J.T.); Department of Cardiology, Leiden University Medical Center, Leiden (A.J.S.); and Department of Cardiology, University Medical Center Groningen, Groningen, the Netherlands (M.P.v.d.B.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000950DOI Listing
April 2015

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Hum Mutat 2014 Sep 15;35(9):1128-35. Epub 2014 Jul 15.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22609DOI Listing
September 2014

Primary ciliary dyskinesia: From diagnosis to molecular mechanisms.

J Pediatr Genet 2014 Jun;3(2):115-27

Department of Pediatric Pulmonology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.3233/PGE-14088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020995PMC
June 2014

Clinical utility gene card for: osteogenesis imperfecta.

Eur J Hum Genet 2013 Jun 26;21(6). Epub 2012 Sep 26.

Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658202PMC
June 2013

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

Ned Tijdschr Geneeskd 2012 ;156(21):A4585

VU medisch centrum, afd. Klinische Genetica, Amsterdam.

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July 2012

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Eur J Hum Genet 2012 Jan 10;20(1):11-9. Epub 2011 Aug 10.

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509PMC
January 2012

Complete COL1A1 allele deletions in osteogenesis imperfecta.

Genet Med 2010 Nov;12(11):736-41

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/GIM.0b013e3181f01617DOI Listing
November 2010

The clinical spectrum of complete FBN1 allele deletions.

Eur J Hum Genet 2011 Mar 10;19(3):247-52. Epub 2010 Nov 10.

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061999PMC
March 2011

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

Pediatr Dev Pathol 2011 May-Jun;14(3):228-34. Epub 2010 Oct 14.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.2350/10-03-0806-CR.1DOI Listing
October 2011

Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B.

N Engl J Med 2010 May;362(20):1940-1; author reply 1941-2

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http://dx.doi.org/10.1056/NEJMc1002797DOI Listing
May 2010

Angiotensin II blockade in Marfan's syndrome.

N Engl J Med 2008 Oct;359(16):1733; author reply 1733-4

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October 2008

Intracranial hypertension in 2 children with marfan syndrome.

J Child Neurol 2008 Aug 19;23(8):954-5. Epub 2008 Mar 19.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1177/0883073808315341DOI Listing
August 2008

BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.

Breast Cancer Res Treat 2007 Dec 15;106(2):297-304. Epub 2007 Feb 15.

Department of Histology & Cell Biology, Faculty of Medicine, Gadjah Mada University, Jogjakarta, Indonesia.

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http://dx.doi.org/10.1007/s10549-006-9493-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2092410PMC
December 2007

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Hum Mutat 2008 Jan;29(1):159-66

Department of Clinical Genetics, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.20625DOI Listing
January 2008

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.

Eur J Hum Genet 2007 Sep 13;15(9):930-5. Epub 2007 Jun 13.

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

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http://www.nature.com/articles/5201865
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http://dx.doi.org/10.1038/sj.ejhg.5201865DOI Listing
September 2007

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

Nat Genet 2007 Feb 31;39(2):159-61. Epub 2006 Dec 31.

Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/ng1942DOI Listing
February 2007

Fine-mapping loss of gene architecture at the CDKN2B (p15INK4b), CDKN2A (p14ARF, p16INK4a), and MTAP genes in head and neck squamous cell carcinoma.

Arch Otolaryngol Head Neck Surg 2006 Apr;132(4):409-15

Department of Otolaryngology-Head and Neck Surgery and Research Division, Henry Ford Hospital, Detroit, MI 48202, USA.

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http://dx.doi.org/10.1001/archotol.132.4.409DOI Listing
April 2006

Muscle weakness as presenting symptom of osteogenesis imperfecta.

Eur J Pediatr 2006 Jun 14;165(6):392-4. Epub 2006 Mar 14.

Division of Endocrinology, Erasmus MC-Sophia Children's Hospital, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00431-006-0083-6DOI Listing
June 2006

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Hum Mutat 2006 Feb;27(2):214

Oregon Health and Science University Cancer Institute, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1002/humu.9402DOI Listing
February 2006

High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model.

Breast Cancer Res Treat 2006 Mar;96(2):177-86

Department of Otolaryngology, Head and Neck Surgery, Wayne State School of Medicine, Henry Ford Hospital, Detroit, MI 48202, USA.

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http://dx.doi.org/10.1007/s10549-005-9077-8DOI Listing
March 2006

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

Nat Genet 2005 Sep 21;37(9):934-5. Epub 2005 Aug 21.

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng1625DOI Listing
September 2005

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism.

Arch Otolaryngol Head Neck Surg 2005 Jul;131(7):635-9

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD, USA.

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http://dx.doi.org/10.1001/archotol.131.7.635DOI Listing
July 2005

Neonatal Marfan syndrome: clinical report and review of the literature.

Clin Dysmorphol 2005 Apr;14(2):81-4

Department of Paediatric Cardiology, University Hospital Maastricht, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1097/00019605-200504000-00005DOI Listing
April 2005

Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

J Biol Chem 2005 May 22;280(19):19259-69. Epub 2005 Feb 22.

Bone and Extracellular Matrix Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1074/jbc.M414698200DOI Listing
May 2005

X-linked inheritance of Fanconi anemia complementation group B.

Nat Genet 2004 Nov 24;36(11):1219-24. Epub 2004 Oct 24.

Laboratory of Genetics, National Institute on Aging, National Institutes of Health, 333 Cassell Drive, TRIAD Center Room 3000, Baltimore, Maryland 21224, USA.

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http://dx.doi.org/10.1038/ng1458DOI Listing
November 2004

Delineating genetic pathways of disease progression in head and neck squamous cell carcinoma.

Arch Otolaryngol Head Neck Surg 2003 Jul;129(7):702-8

Department of Otolaryngology-Head and Neck Surgery, Research Division, Henry Ford Health System, Detroit, MI 48202, USA.

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http://dx.doi.org/10.1001/archotol.129.7.702DOI Listing
July 2003

Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services.

Community Genet 2003 ;6(1):5-13

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands.

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https://www.karger.com/Article/FullText/69540
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http://dx.doi.org/10.1159/000069540DOI Listing
October 2003

Familial abdominal aortic aneurysms: collection of 233 multiplex families.

J Vasc Surg 2003 Feb;37(2):340-5

Center for Molecular Medicine and Genetics and Department of Surgery, Wayne State University School of Medicine, Detroit, MI 48201, USA.

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http://dx.doi.org/10.1067/mva.2003.71DOI Listing
February 2003

Searching for preeclampsia genes: the current position.

Eur J Obstet Gynecol Reprod Biol 2002 Nov;105(2):94-113

Department of Clinical Genetics and Human Genetics, VU University Medical Centre, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/s0301-2115(02)00208-7DOI Listing
November 2002

Biallelic inactivation of BRCA2 in Fanconi anemia.

Science 2002 Jul 13;297(5581):606-9. Epub 2002 Jun 13.

Department of Pediatric Oncology, Children's Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1073834DOI Listing
July 2002

Establishing a molecular continuum in breast cancer DNA microarrays and benign breast disease.

Cytometry 2002 Jan;47(1):56-9

Department of Otolaryngology, Henry Ford Health System, Detroit, Michigan 48202, USA.

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http://dx.doi.org/10.1002/cyto.10040DOI Listing
January 2002