نتائج البحث - "Huybrechts, Yentl"

1

Academic Journal

Osteocytic sclerostin expression as an indicator of altered bone turnover

المؤلفون: Huybrechts, Yentl, Evenepoel, Pieter, Haarhaus, Mathias, Cavalier, Etienne, Dams, Geert, Van Hul, Wim, d' Haese, Patrick C., Verhulst, Anja

المصدر: 2072-6643 ; Nutrients

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000930421300001

الاتاحة: https://hdl.handle.net/10067/1933330151162165141
https://repository.uantwerpen.be/docstore/d:irua:15897

View record in BASE

2

Academic Journal

Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking

المؤلفون: Huybrechts, Yentl, Van Hul, Wim

المصدر: 8756-3282 ; Bone

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000863197700006

الاتاحة: https://hdl.handle.net/10067/1913590151162165141
https://repository.uantwerpen.be/docstore/d:irua:14718

View record in BASE

3

Academic Journal

Identification of compound heterozygous variants in LRP4 demonstrates that a pathogenic variant outside the third β-propeller domain can cause sclerosteosis

المؤلفون: Huybrechts, Yentl, Boudin, Eveline, Hendrickx, Gretl, Steenackers, Ellen, Hamdy, Neveen, Mortier, Geert, Martinez Diaz-Guerra, Guillermo, Bracamonte, Milagros Sierra, Appelman-Dijkstra, Natasha M., Van Hul, Wim

المصدر: 2073-4425 ; Genes

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000748143800001

الاتاحة: https://hdl.handle.net/10067/1864770151162165141
https://repository.uantwerpen.be/docstore/d:irua:11181

View record in BASE

4

Academic Journal

The sqstm1tmΔUBA zebrafish model, a proof-of-concept in vivo model for Paget’s disease of bone?

المؤلفون: Huybrechts, Yentl, De Ridder, Raphaël, De Samber, Björn, Boudin, Eveline, Tonelli, Francesca, Knapen, Dries, Schepers, Dorien, De Beenhouwer, Jan, Sijbers, Jan, Forlino, Antonella, Mortier, Geert, Coucke, Paul, Witten, P. Eckhard, Kwon, Ronald, Willaert, Andy, Hendrickx, Gretl, Van Hul, Wim

المصدر: Bone Reports ; volume 16, page 101483 ; ISSN 2352-1872

الاتاحة: http://dx.doi.org/10.1016/j.bonr.2022.101483
https://api.elsevier.com/content/article/PII:S2352187222003187?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352187222003187?httpAccept=text/plain

View record in BASE

5

Academic Journal

A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.

المؤلفون: Huybrechts, Yentl, Appelman-Dijkstra, Natasha M, Steenackers, Ellen, Beylen, Wouter Van, Mortier, Geert, Hendrickx, Gretl, Hul, Wim Van

المصدر: Journal of Clinical Endocrinology & Metabolism; Jul2024, Vol. 109 Issue 7, p1891-1898, 8p

مصطلحات موضوعية: WNT signal transduction, MISSENSE mutation, GENETIC variation, BONE growth, DUTCH people, CELLULAR signal transduction, BONE density

6

Academic Journal

A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-ÎºB Signaling and Supports the Importance of the 7q33 Locus.

المؤلفون: De Ridder, RaphaÃ«l, Vandeweyer, Geert, Boudin, Eveline, Hendrickx, Gretl, Huybrechts, Yentl, Cremers, Tycho Canter, Devogelaer, Jean-Pierre, Mortier, Geert, Fransen, Erik, Van Hul, Wim

المساهمون: UCL - (SLuc) Service de rhumatologie, UCL - SSS/IREC/RUMA - PÃ´le de Pathologies rhumatismales

المصدر: Calcified tissue international, Vol. 109, no. 6, p. 656-665 (2021)

مصطلحات موضوعية: Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mutation, NF-kappa B, Osteitis Deformans, Sequestosome-1 Protein, Signal Transduction, Molecular inversion probes, Pagetâ€™s disease of bone, Pathogenesis, Targeted sequencing

Relation: boreal:261898; http://hdl.handle.net/2078.1/261898; info:pmid/34173013; urn:ISSN:0171-967X; urn:EISSN:1432-0827

الاتاحة: http://hdl.handle.net/2078.1/261898
https://doi.org/10.1007/s00223-021-00881-w

View record in BASE

7

Academic Journal

A panel-based sequencing analysis of patients with Paget's disease of bone suggests enrichment of rare genetic variation in regulators of NF-κB signaling and supports the importance of the 7q33 locus

المؤلفون: De Ridder, Raphaël, Vandeweyer, Geert, Boudin, Eveline, Hendrickx, Gretl, Huybrechts, Yentl, Canter Cremers, Tycho, Devogelaer, Jean-Pierre, Mortier, Geert, Fransen, Erik, Van Hul, Wim

المصدر: 0171-967X ; Calcified tissue international

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000666919700002

الاتاحة: https://hdl.handle.net/10067/1796480151162165141
https://repository.uantwerpen.be/docstore/d:irua:7533

View record in BASE

8

Academic Journal

WNT signaling and bone : lessons from skeletal dysplasias and disorders

المؤلفون: Huybrechts, Yentl, Mortier, Geert, Boudin, Eveline, Van Hul, Wim

المصدر: 1664-2392 ; Frontiers in endocrinology

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000529232800001

الاتاحة: https://hdl.handle.net/10067/1695920151162165141
https://repository.uantwerpen.be/docstore/d:irua:1969

View record in BASE

9

Academic Journal

Compound heterozygosity of mutations located in the first and third β-propeller domain of LRP4 causes sclerosteosis in a Spanish patient

المؤلفون: Huybrechts, Yentl, Steenackers, Ellen, Hamdy, Neveen, Mortier, Geert, Martinez, Guillermo, Bracamonte, Milagros Sierra, Appelman-Dijkstra, Natasha, Van Hul, Wim, Boudin, Eveline

المصدر: Bone Reports ; volume 13, page 100604 ; ISSN 2352-1872

الاتاحة: http://dx.doi.org/10.1016/j.bonr.2020.100604
https://api.elsevier.com/content/article/PII:S2352187220303648?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352187220303648?httpAccept=text/plain

View record in BASE

10

Academic Journal

Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.

المؤلفون: Huybrechts, Yentl, De Ridder, RaphaÃ«l, Steenackers, Ellen, Devogelaer, Jean-Pierre, Mortier, Geert, Hendrickx, Gretl, Van Hul, Wim

المساهمون: UCL - SSS/IREC/RUMA - PÃ´le de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie

المصدر: Calcified tissue international, Vol. 113, no.5, p. 552-557 (2023)

مصطلحات موضوعية: Humans, Osteitis Deformans, Nuclear Localization Signals, Sequestosome-1 Protein, Genetic Testing, Transcription Factors, Mutation, Profilins, Mutation analysis, PFN1, Pagetâ€™s disease of bone, Profilin 1, ZNF687

Relation: boreal:288950; http://hdl.handle.net/2078.1/288950; info:pmid/37728743; urn:ISSN:0171-967X; urn:EISSN:1432-0827

الاتاحة: http://hdl.handle.net/2078.1/288950
https://doi.org/10.1007/s00223-023-01137-5

View record in BASE

11

Dissertation/ Thesis

Unraveling the genetic landscape of high bone mass disorders and Paget’s disease of bone: From variant identification and validation to zebrafish modeling ; Ontrafelen van het genetisch landschap van aandoeningen met hoge botmassa en de ziekte van Paget: Van variant identificatie en validatie tot zebravismodellen

المؤلفون: Huybrechts, Yentl

المساهمون: Van Hul, Wim, Mortier, Geert

مصطلحات موضوعية: Biology, Human medicine

الاتاحة: https://hdl.handle.net/10067/1982070151162165141

View record in BASE

تنقيح النتائج