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1
Vasospastic angina in a boy with hereditary hemorrhagic telangiectasia due to heterogenous large deletion around ENG
Vasospastic angina in a boy with hereditary hemorrhagic telangiectasia due to heterogenous large deletion around ENG
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Vasospastic angina in a boy with hereditary hemorrhagic telangiectasia due to heterogenous large deletion around ENG

Narazaki, Kentaro ; Nagatomo, Yusaku ; Uike, Kiyoshi ; Sonoda, Motoshi ; Nagata, Hazumu ; Yamamura, Kenichiro ; Ohga, Shouichi

Pediatrics international, 2023-01, Vol.65 (1), p.e15500-n/a [Periódico revisado por pares]

Australia: Blackwell Publishing Ltd

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2
Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers
Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers
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Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers

SABBÀ, C. ; PASCULLI, G. ; LENATO, G. M. ; SUPPRESSA, P. ; LASTELLA, P. ; MEMEO, M. ; DICUONZO, F. ; GUANTI, G.

Journal of thrombosis and haemostasis, 2007-06, Vol.5 (6), p.1149-1157 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Non‐invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers
Non‐invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers
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Non‐invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers

Soysal, Nurcan ; Eyries, Mélanie ; Verlhac, Suzanne ; Escabasse, Virginie ; Remus, Natascha ; Tamalet, Aline ; Rioux, Jean‐Yves ; Franchi‐Abella, Stéphanie ; Vasile, Manuela ; Robert, Sarah ; Delestrain, Céline ; Hau, Isabelle ; Ducou‐Le Pointe, Hubert ; Soubrier, Florent ; Carette, Marie‐France ; Epaud, Ralph

Pediatric pulmonology, 2017-05, Vol.52 (5), p.642-649 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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4
Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?
Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?
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Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?

van Gent, Marco W.F. ; Velthuis, Sebastiaan ; Post, Martijn C. ; Snijder, Repke J. ; Westermann, Cornelis J.J. ; Letteboer, Tom G.W. ; Mager, Johannes J.

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.461-466 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype
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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

Bossler, Aaron D. ; Richards, Jennifer ; George, Cicily ; Godmilow, Lynn ; Ganguly, Arupa

Human mutation, 2006-07, Vol.27 (7), p.667-675 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan
Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan
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Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan

Dakeishi, Miwako ; Shioya, Takanobu ; Wada, Yasuhiko ; Shindo, Tsutomu ; Otaka, Kousei ; Manabe, Motomu ; Nozaki, Jun-Ichi ; Inoue, Sumiko ; Koizumi, Akio

Human mutation, 2002-02, Vol.19 (2), p.140-148 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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7
Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension
Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension
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Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension

Chen, Yan-Jun ; Yang, Qing-Hui ; Liu, Dong ; Liu, Qian-Qian ; Eyries, Mélanie ; Wen, Liang ; Wu, Wen-Hui ; Jiang, Xin ; Yuan, Ping ; Zhang, Rui ; Soubrier, Florent ; Jing, Zhi-Cheng

European journal of clinical investigation, 2013-10, Vol.43 (10), p.1016-1024 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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8
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia
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Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

Abdalla, Salma A. ; Cymerman, Urszula ; Rushlow, Diane ; Chen, Ning ; Stoeber, Gwendolyn P. ; Lemire, Edmond G. ; Letarte, Michelle

Human mutation, 2005-03, Vol.25 (3), p.320-321 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family
Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family
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Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family

Wooderchak, W ; Gedge, F ; McDonald, M ; Krautscheid, P ; Wang, X ; Malkiewicz, J ; Bukjiok, CJ ; Lewis, T ; Bayrak-Toydemir, P

Clinical genetics, 2010-11, Vol.78 (5), p.484-489 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations
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Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations

Kuehl, Heidi K.A. ; Caselitz, Martin ; Hasenkamp, Sandra ; Wagner, Siegfried ; El-Harith, El-Harith A. ; Manns, Michael P. ; Stuhrmann, Manfred

Human mutation, 2005-03, Vol.25 (3), p.320-320 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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