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Search life-sciences literature (45,104,145 articles, preprints and more)

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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia.
Al-Samkari H, Kasthuri RS, Iyer VN, Pishko AM, Decker JE, Weiss CR, Whitehead KJ, Conrad MB, Zumberg MS, Zhou JY, Parambil J, Marsh D, Clancy M, Bradley L, Wisniewski L, Carper BA, Thomas SM, McCrae KR
N Engl J Med, 391(11):1015-1027, 01 Sep 2024
Cited by: 0 articles | PMID: 39292928 | PMCID: PMC11412318
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A rare case of spinal involvement in hereditary hemorrhagic telangiectasia.
Hvingelby V, Mikkelsen R, Gudmundsdottir G, Andersen M, Hagen EM
Spinal Cord Ser Cases, 10(1):49, 17 Jul 2024
Cited by: 0 articles | PMID: 39019878 | PMCID: PMC11255245
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Increased Risk for Infections and Allergic Disease in Hereditary Hemorrhagic Telangiectasia.
Droege F, König J, Lang KS, Jablonska J, Pylaeva E, Huckenbeck C, Wrobeln A, Duerig I, Thangavelu K, Lang S, Geisthoff U
J Clin Med, 13(13):3752, 27 Jun 2024
Cited by: 0 articles | PMID: 38999318
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Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME, Patel D, Bielowka A, Zhu J, Jain K, Mackay IS, Chaves Guerrero P, Emanuelli G, Jovine L, Noseda M, Marciniak SJ, Aldred MA, Shovlin CL
Blood, 143(22):2314-2331, 01 May 2024
Cited by: 0 articles | PMID: 38457357 | PMCID: PMC11181359
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Iron deficiency responses and integrated compensations in patients according to hereditary hemorrhagic telangiectasia ACVRL1, ENG and SMAD4 genotypes.
Sharma L, Almaghlouth F, Mckernan H, Springett J, Tighe HC, Shovlin CL
Haematologica, 109(3):958-962, 01 Mar 2024
Cited by: 3 articles | PMID: 37731378
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Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
Shovlin CL, Almaghlouth FI, Alsafi A, Coote N, Rennie C, Wallace GM, Govani FS, Research Consortium GE
J Med Genet, 61(2):182-185, 19 Jan 2024
Cited by: 4 articles | PMID: 37586837 | PMCID: PMC10850674
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Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management.
Jørgensen OJ, Steineger JE, Hillarp A, Pareli Wåland E, Holme PA, Heimdal K, Dheyauldeen S
Laryngoscope Investig Otolaryngol, 9(1):e1196, 14 Dec 2023
Cited by: 1 article | PMID: 38362186 | PMCID: PMC10866586
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Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia.
McCarley SC, Murphy DA, Thompson J, Shovlin CL
J Clin Med, 12(24):7710, 15 Dec 2023
Cited by: 1 article | PMID: 38137783 | PMCID: PMC10744266
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Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K, McCarley SC, Mukhtar G, Ferlin A, Fleming A, Morris-Rosendahl DJ, Shovlin CL
J Clin Med, 13(1):250, 31 Dec 2023
Cited by: 2 articles | PMID: 38202257 | PMCID: PMC10779873
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Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ, Genomics England Research Consortium, Shovlin CL
Am J Hum Genet, 110(11):1903-1918, 09 Oct 2023
Cited by: 3 articles | PMID: 37816352 | PMCID: PMC10645545
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Prevalence and risk factors for bleeding in hereditary hemorrhagic telangiectasia: a National Inpatient Sample study.
Zarka J, Jeong K, Yabes JG, Ragni MV
Blood Adv, 7(19):5843-5850, 01 Oct 2023
Cited by: 4 articles | PMID: 37567149 | PMCID: PMC10561038
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Multifocal Abscesses, Necrotizing Fasciitis, Iron Deficiency Anemia, and Hypophosphatemia Induced by Ferric Carboxymaltose Infusions: Report of a Case of Hereditary Hemorrhagic Telangiectasia.
Trevise LA, Lopes Vieira Pinto MP, Hasselmann G, Lammoglia BC, Leal TP, Salles Rosa Neto N
Cureus, 15(8):e44020, 24 Aug 2023
Cited by: 0 articles | PMID: 37746404 | PMCID: PMC10517736
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uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O, Tillet E, Proust C, Dupont C, Jaspard-Vinassa B, Soubrier F, Goyenvalle A, Eyries M, Trégouët DA
NPJ Genom Med, 8(1):32, 17 Oct 2023
Cited by: 1 article | PMID: 37848456 | PMCID: PMC10582052
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Hypoxia-Inducible Factor-Prolyl Hydroxylase Inhibitor Improves Leukocyte Energy Metabolism in Hereditary Hemorrhagic Telangiectasia.
Schild Y, Bosserhoff J, Droege F, Littwitz-Salomon E, Fandrey J, Wrobeln A
Life (Basel), 13(8):1708, 09 Aug 2023
Cited by: 0 articles | PMID: 37629565 | PMCID: PMC10456096
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Endovascular Treatment of a Giant Aneurysm of the Aberrant Right Hepatic Artery in a Patient with Osler-Weber-Rendu Syndrome: A Case Report.
Çildağ MB, Gök M, Öztürk T, Köseoğlu ÖFK
Vasc Specialist Int, 39:25, 05 Sep 2023
Cited by: 1 article | PMID: 37667663 | PMCID: PMC10480046
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Executive summary of the 14th HHT international scientific conference.
Ola R, Hessels J, Hammill A, Friday C, Clancy M, Al-Samkari H, Meadows S, Iyer V, Akhurst R
Angiogenesis, 26(suppl 1):27-37, 01 Aug 2023
Cited by: 0 articles | PMID: 37695357 | PMCID: PMC10543799
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Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia.
Mukhtar G, Shovlin CL
EJHaem, 4(3):602-611, 03 Jul 2023
Cited by: 3 articles | PMID: 37601877 | PMCID: PMC10435691
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Silicone septal splint for recurrent epistaxis in HHT patients: experience of a national referral centre.
Matti E, Maiorano E, Nacu B, Luceri A, Sovardi F, Siragusa V, Ferrauto A, Spinozzi G, Olivieri C, Benazzo M, Pagella F
Acta Otorhinolaryngol Ital, 43(suppl. 1):S28-S33, 01 Apr 2023
Cited by: 0 articles | PMID: 37698097 | PMCID: PMC10159634
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ANG2 Blockade Diminishes Proangiogenic Cerebrovascular Defects Associated With Models of Hereditary Hemorrhagic Telangiectasia.
Zhou X, Pucel JC, Nomura-Kitabayashi A, Chandakkar P, Guidroz AP, Jhangiani NL, Bao D, Fan J, Arthur HM, Ullmer C, Klein C, Marambaud P, Meadows SM
Arterioscler Thromb Vasc Biol, 43(8):1384-1403, 08 Jun 2023
Cited by: 5 articles | PMID: 37288572 | PMCID: PMC10524982
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Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management-Case Report and Literature Review.
Sârbu F, Oprea VD, Tatu AL, Polea Drima E, Bojincă VC, Romila A
Life (Basel), 12(7):1059, 15 Jul 2022
Cited by: 1 article | PMID: 35888148 | PMCID: PMC9320563
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Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.
Joyce KE, Onabanjo E, Brownlow S, Nur F, Olupona K, Fakayode K, Sroya M, Thomas GA, Ferguson T, Redhead J, Millar CM, Cooper N, Layton DM, Boardman-Pretty F, Caulfield MJ, Genomics England Research Consortium, Shovlin CL
Blood Adv, 6(13):3956-3969, 01 Jul 2022
Cited by: 8 articles | PMID: 35316832 | PMCID: PMC9278305
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Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia.
Anderson E, Sharma L, Alsafi A, Shovlin CL
Thorax, 77(6):628-630, 14 Feb 2022
Cited by: 9 articles | PMID: 35165143 | PMCID: PMC9120382
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A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome.
Jargielo A, Rycyk A, Kasztelan-Szczerbinska B, Cichoz-Lach H
Medicina (Kaunas), 58(3):333, 22 Feb 2022
Cited by: 0 articles | PMID: 35334510 | PMCID: PMC8951266
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Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M, Alikian M, Curetean E, Thomas E, McConnell VPM, McKee S, Boardman-Pretty F, Devereau A, Fowler TA, Caulfield MJ, Alton EW, Ferguson T, [...] Shovlin CL
Am J Med Genet A, 188(3):959-964, 13 Dec 2021
Cited by: 23 articles | PMID: 34904380 | PMCID: PMC9939255
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The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.
Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, [...] Dupuis-Girod S
Eur J Med Genet, 65(1):104370, 01 Nov 2021
Cited by: 25 articles | PMID: 34737116
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1-25 of 25 results

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia.

A rare case of spinal involvement in hereditary hemorrhagic telangiectasia.

Increased Risk for Infections and Allergic Disease in Hereditary Hemorrhagic Telangiectasia.

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Iron deficiency responses and integrated compensations in patients according to hereditary hemorrhagic telangiectasia ACVRL1, ENG and SMAD4 genotypes.

Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.

Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management.

Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia.

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.

Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.

Prevalence and risk factors for bleeding in hereditary hemorrhagic telangiectasia: a National Inpatient Sample study.

Multifocal Abscesses, Necrotizing Fasciitis, Iron Deficiency Anemia, and Hypophosphatemia Induced by Ferric Carboxymaltose Infusions: Report of a Case of Hereditary Hemorrhagic Telangiectasia.

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Hypoxia-Inducible Factor-Prolyl Hydroxylase Inhibitor Improves Leukocyte Energy Metabolism in Hereditary Hemorrhagic Telangiectasia.

Endovascular Treatment of a Giant Aneurysm of the Aberrant Right Hepatic Artery in a Patient with Osler-Weber-Rendu Syndrome: A Case Report.

Executive summary of the 14th HHT international scientific conference.

Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia.

Silicone septal splint for recurrent epistaxis in HHT patients: experience of a national referral centre.

ANG2 Blockade Diminishes Proangiogenic Cerebrovascular Defects Associated With Models of Hereditary Hemorrhagic Telangiectasia.

Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management-Case Report and Literature Review.

Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.

Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia.

A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome.

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.

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