The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Autorzy:
Rraku E; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands. Kerstjens-Frederikse WS; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands. Swertz MA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands. Dijkhuizen T; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands. vanRavenswaaij-ArtsCMA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.; ATN/Jonx, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl. Engwerda A; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 24; Vol. 18 (1), pp. 68. Date of Electronic Publication: 2023 Mar 24.
Typ publikacji:
Review; Journal Article; Research Support, Non-U.S. Gov't
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
Autorzy:
Engwerda A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Frentz B; Vanboeijen, Assen, The Netherlands. Rraku E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. de Souza NFS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Swertz MA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Plantinga M; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Kerstjens-Frederikse WS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Ranchor AV; Department of Health Psychology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. vanRavenswaaij-ArtsCMA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.; ATN/Jonx, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 19; Vol. 18 (1), pp. 60. Date of Electronic Publication: 2023 Mar 19.
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Autorzy:
Engwerda A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Kerstjens-Frederikse WS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Corsten-Janssen N; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Dijkhuizen T; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. vanRavenswaaij-ArtsCMA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.; ATN/Jonx, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 19; Vol. 18 (1), pp. 59. Date of Electronic Publication: 2023 Mar 19.
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.
Autorzy:
Gustafson J; Seattle Children's Research Institute, Center for Developmental Biology and Regenerative Medicine, Seattle, WA, USA. Bjork M; Närhälsan Ågårdsskogens Vårdcentral, Lidköping, Sweden. vanRavenswaaij-ArtsCMA; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands. Cunningham ML; Seattle Children's Research Institute, Center for Developmental Biology and Regenerative Medicine, Seattle, WA, USA.; Seattle Children's Hospital Craniofacial Center, Seattle, WA, USA.; University of Washington, Department of Pediatrics, Seattle, WA, USA.
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Źródło:
Case reports in genetics [Case Rep Genet] 2022 Mar 26; Vol. 2022, pp. 3239260. Date of Electronic Publication: 2022 Mar 26 (Print Publication: 2022).
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Autorzy:
Hitzert MM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. . van der Crabben SN; Department of Medical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. Baldewsingh G; Medical Mission Primary Health Care Suriname, Paramaribo, Suriname. van Amstel HKP; Department of Medical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. vanRavenswaaij-ArtsCMA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Zijlmans CWR; Scientific Research Centre Suriname, Academic Hospital Paramaribo, Paramaribo, Suriname.; Faculty of Medical Sciences, Anton de Kom University of Suriname, Paramaribo, Suriname.; Department of Paediatrics, Diakonessenhuis Hospital, Paramaribo, Suriname.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Dec 19; Vol. 14 (1), pp. 294. Date of Electronic Publication: 2019 Dec 19.
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