Search Results - "Angwin, Chloe"

Case report: Two individuals with AEBP1 -related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants by Angwin, Chloe, Ghali, Neeti, van Dijk, Fleur Stephanie

“…-related classical-like EDS (clEDS type 2) is a rare type of Ehlers-Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical…”
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Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome by Angwin, Chloe, Ghali, Neeti, Stephanie van Dijk, Fleur

“…Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an…”
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Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility by Green, Claire, Ghali, Neeti, Akilapa, Rhoda, Angwin, Chloe, Baker, Duncan, Bartlett, Marion, Bowen, Jessica, Brady, Angela F., Brock, Joanna, Chamberlain, Erin, Cheema, Harveer, McConnell, Vivienne, Crookes, Renarta, Kazkaz, Hanadi, Johnson, Diana, Pope, F. Michael, Vandersteen, Anthony, Sobey, Glenda, van Dijk, Fleur S.

“…Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and…”
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A review of 117 cases of unprovoked pulmonary embolism and further investigation in patients over 40 by Angwin, Chloe, Rochester, Alana, Jawad, Muhammad

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Skin fragility and wound management in Ehlers–Danlos syndromes: a report by the International Consortium on Ehlers–Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group by Angwin, Chloe, Doolan, Brent J, Hausser, Ingrid, Labine, Barry, Lavallee, Mark, Mackay, Donald, Pope, F Michael, Seneviratne, Suranjith L, Winship, Ingrid, Burrows, Nigel P

“…The Ehlers–Danlos syndromes (EDSs) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin…”
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Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome by Lepperdinger, Ulrike, Angwin, Chloe, Milnes, Di, Sobey, Glenda, Ghali, Neeti, Johnson, Diana, Brady, Angela F., Kammin, Tammy, Bowen, Jessica M., Gröbner, Rebekka, Lundberg, Pernilla, Scott, James, Zschocke, Johannes, Dijk, Fleur S., Kapferer‐Seebacher, Ines

“…Aim Periodontal Ehlers‐Danlos syndrome (pEDS) is a monogenic type of Ehlers‐Danlos syndrome characterized by periodontal destruction at a young age. The…”
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Skin fragility and wound management in Ehlers- Danlos Syndrome: a report by the Ehlers Danlos Syndrome society skin working group by Angwin, Chloe, Doolan, Brent J, Hausser, Ingrid, Labine, Barry, Lavallee, Mark, Mackay, Donald, Pope, F Michael, Seneviratne, Suranjith L, Winship, Ingrid, Burrows, Nigel P

“…The Ehlers-Danlos Syndromes (EDS) are a heterogenous group of heritable connective tissue disorders, characterised by joint hypermobility, skin…”
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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome by Ayoub, Sandy, Ghali, Neeti, Angwin, Chloe, Baker, Duncan, Baffini, Stella, Brady, Angela F., Giovannucci Uzielli, Maria Luisa, Giunta, Cecilia, Johnson, Diana S., Kosho, Tomoki, Neas, Katherine, Pope, F. Michael, Rutsch, Frank, Scarselli, Gloria, Sobey, Glenda, Vandersteen, Anthony, Dijk, Fleur S.

“…Arthrochalasia Ehlers‐Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip…”
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Are early pregnancy complications more common in women with hyperemesis gravidarum? by Morgan, Sinead R., Long, Lisa, Johns, Jemma, Angwin, Chloe, Maitra, Supriya, Ross, Jackie A.

“…Ultrasound evaluation is usually requested for women presenting with hyperemesis gravidarum (HG) in early pregnancy. This is to check viability as well as to…”
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Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients by Angwin, Chloe, Brady, Angela F, Colombi, Marina, Ferguson, David J P, Pollitt, Rebecca, Pope, F Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S

“…Two probands are reported with pathogenic and likely pathogenic variants (frameshift and splice site) in whom no collagen flowers have been identified with…”
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Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome by Angwin, Chloe, Ghali, Neeti, Stephanie van Dijk, Fleur

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Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants by Angwin, Chloe, Ghali, Neeti, van Dijk, Fleur Stephanie

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Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients by Angwin, Chloe, Brady, Angela F, Colombi, Marina, Ferguson, David J P, Pollitt, Rebecca, Pope, F Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S

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