Works matching DE "CUTIS laxa"

Results: 125

Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09446-0

By:

Zhang, Ying;
Sun, Mei;
Li, Na;
Zhao, Yiran;
Zhang, Fang;
Shu, Jianbo;
Liu, Yang;
Cai, Chunquan

Publication type:

Article

Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 11, p. 1, doi. 10.1093/ehjcr/ytad530

By:

Used-Gavín, Alejandro;
Larrañaga-Moreira, José María;
Lago-Cascudo, Rafael;
Mosquera-Rodríguez, Víctor X;
Barriales-Villa, Roberto

Publication type:

Article

De Barsy syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S100
Publication type:: Article

Cutis laxa (elastolysis) in a patient with Sjögren's syndrome.

Published in:

2015

By:

Işık, Metin;
Aydın, Çisel

Publication type:

Case Study

Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 10, p. 1895, doi. 10.1111/ced.15303

By:

Makino, Teruhiko;
Terada, Yoshiyuki;
Mizawa, Megumi;
Hirono, Keiichi;
Adachi, Yuichi;
Aoki, Satomi;
Kubo, Akiharu;
Shimizu, Tadamichi

Publication type:

Article

Relapsing bullous amyloidosis of the oral mucosa and acquired cutis laxa in a patient with multiple myeloma: a rare triple association.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 4, p. 410, doi. 10.1111/ced.13084

By:

Gonzalez‐Ramos, J.;
Garrido‐Gutiérrez, C.;
González‐Silva, Y.;
Yébenes‐Gregorio, L.;
Beato‐ Merino, M.;
Vidaurrázaga‐Arcaya, C.;
Herranz‐Pinto, P.

Publication type:

Article

Acquired Localized Cutis Laxa due to Increased Elastin Turnover.

Published in:

2016

By:

Nygaard, Rie Harboe;
Maynard, Scott;
Schjerling, Peter;
Kjaer, Michael;
Qvortrup, Klaus;
Bohr, Vilhelm a.;
Rasmussen, Lene J.;
Jemec, Gregor B.E.;
Heidenheim, Michael

Publication type:

Case Study

In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00479-5

By:

Khosravi, Teymoor;
Naghipoor, Karim;
Vaghefi, Fatemeh;
Falahati, Ali Mohammad;
Oladnabi, Morteza

Publication type:

Article

Giant aortic aneurysm due to fibulin- 4 deficiency: case series.

Published in:

Türk Pediatri Arşivi, 2019, v. 54, n. 2, p. 119, doi. 10.5152/TurkPediatriArs.2018.4658

By:

Sülü, Ayşe;
Başpınar, Osman;
Şahin, Derya Aydın

Publication type:

Article

Acquired cutis laxa associated with inflammatory bowel disease, inflammatory arthritis and IgA nephropathy.

Published in:

2018

By:

Nirmal, Balakrishnan;
George, Renu;
Bindra, Mandeep Singh

Publication type:

Letter to the Editor

Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis.

Published in:

2017

By:

Leblebici, Cem;
Falay, Tuğba;
Zırtıloğlu, Sibel;
Demirkesen, Cuyan

Publication type:

Case Study

A case of Marshall's syndrome (postinflammatory elastolysis).

Published in:

2017

By:

Yürekli, Aslan;
Açıkgöz, Gürol;
Can, İlkay;
Çalışkan, Ercan;
Yavan, İbrahim

Publication type:

Case Study

Developmental retardation in postinflammatory elastolysis and cutis laxa.

Published in:

2016

By:

Sharma, Prafulla Kumar;
Meena, Neha;
Bhardwaj, Minakshi;
Dixit, Niharika

Publication type:

Case Study

Acquired cutis laxa of face with multiple myeloma.

Published in:

2014

By:

Yadav, Tulika A.;
Dongre, Atul M.;
Khopkar, Uday S.

Publication type:

Letter to the Editor

General anesthesia of a Japanese infant with Barber-Say syndrome: a case report.

Published in:

JA Clinical Reports, 2016, v. 2, n. 1, p. 1, doi. 10.1186/s40981-016-0033-x

By:

Hamaguchi, Eisuke;
Tsutsumi, Yasuo;
Kume, Katsuyoshi;
Sakai, Yoko;
Kakuta, Nami;
Uemura, Yuta;
Kawahito, Shinji;
Tanaka, Katsuya

Publication type:

Article

A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa.

Published in:

2025

By:

Alrefaie, Sumayyah I;
Aljoudi, Sarah B.;
Nukaly, Houriah Y.;
Alhawsawi, Waseem K.;
Shadid, Asem;
AlNasser, Sultan;
Hariri, Jehad

Publication type:

Case Study

De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets.

Published in:

2025

By:

Chandan, Subhangi;
Gohri, Jay;
Jolly, Arshia;
Chaurasia, Mayuri

Publication type:

Case Study

Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement.

Published in:

2022

By:

Pees, Christiane;
Zimpfer, Daniel;
Radakovic, Sonja;
Beitzke, Dietrich;
Michel‐Behnke, Ina;
Laccone, Franco A.

Publication type:

Case Study

Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN.

Published in:

2015

By:

Vodo, Dan;
Sarig, Ofer;
Peled, Alon;
Frydman, Moshe;
Greenberger, Shoshi;
Sprecher, Eli

Publication type:

Case Study

Management of Acquired Generalized Cutis Laxa: A Case Report of Nipple-areola Complex Repositioning through Supramammary Incision.

Published in:

Turkish Journal of Plastic Surgery, 2024, v. 32, n. 3, p. 111, doi. 10.4103/tjps.tjps_76_23

By:

Çavuşoğlu, Gökberk;
Kara, Murat;
Kılıç, Meltem Didem

Publication type:

Article

Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu).

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1264237

By:

Yuan Fang;
Yi-Zhen Wang;
Lian Chen;
Xin-Bao Xie

Publication type:

Article

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Published in:

Cellular & Molecular Life Sciences, 2024, v. 82, n. 1, p. 1, doi. 10.1007/s00018-024-05506-7

By:

Kopp, Johannes;
Jahn, Denise;
Vogt, Guido;
Psoma, Anthi;
Ratto, Edoardo;
Morelle, Willy;
Stelzer, Nina;
Hausser, Ingrid;
Hoffmann, Anne;
de los Santos, Miguel Rodriguez;
Koch, Leonard A.;
Fischer-Zirnsak, Björn;
Thiel, Christian;
Palm, Wilhelm;
Meierhofer, David;
van den Bogaart, Geert;
Foulquier, François;
Meinhardt, Andreas;
Kornak, Uwe

Publication type:

Article

Mounier-Kuhn syndrome: a rare and often overlooked cause of bronchial dilation and recurrent respiratory tract infections.

Published in:

Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2014, v. 40, n. 1, p. 96, doi. 10.1590/S1806-37132014000100017

By:

Kapoor, Shailendra

Publication type:

Article

Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature.

Published in:

Annals of Thoracic Medicine, 2018, v. 13, n. 4, p. 254, doi. 10.4103/atm.ATM_402_17

By:

Hajjar, Waseem;
Alrajeh, Areej;
Alturki, Lulwah;
Al-Nassar, Sami;
Hajjar, Adnan

Publication type:

Article

Severe cutis laxa caused by immunoglobulin M gammopathy.

Published in:

British Journal of Haematology, 2022, v. 196, n. 4, p. 802, doi. 10.1111/bjh.17912

By:

Nota, Nienke M.;
Westerman, Matthijs

Publication type:

Article

Ophthalmic Plastic Surgery of the Upper Face: Eyelid Ptosis, Dermatochalasis, and Eyebrow Ptosis.

Published in:

2020

By:

Ullas, G

Publication type:

Book Review

Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 6, p. e351, doi. 10.1111/pde.12969

By:

Bou‐Assi, Elodie;
Bonniaud, Bertille;
Grimaldi, Marianne;
Faivre, Laurence;
Vabres, Pierre

Publication type:

Article

Bilateral Congenital Entropion with Cutis Laxa.

Published in:

Pediatric Dermatology, 2014, v. 31, n. 3, p. e82, doi. 10.1111/pde.12255

By:

Al‐Faky, Yasser H.;
Salih, Mustafa A.;
Mubarak, Mohammed;
Al‐Rikabi, Ammar C.

Publication type:

Article

A Novel Elastin Gene Mutation in a Vietnamese Patient with Cutis Laxa.

Published in:

Pediatric Dermatology, 2014, v. 31, n. 3, p. 347, doi. 10.1111/pde.12334

By:

Siefring, Mark L.;
Lawrence, Elizabeth C.;
Nguyen, Tom C.;
Lu, Doanh;
Pham, Giang;
Lorenchick, Christa;
Levine, Kara L.;
Urban, Zsolt

Publication type:

Article

Type V Aplasia Cutis Congenita: Case Report, Review of the Literature, and Proposed Treatment Algorithm.

Published in:

Pediatric Dermatology, 2013, v. 30, n. 6, p. e208, doi. 10.1111/j.1525-1470.2012.01742.x

By:

Morrow, Daniel;
Schelonka, Robert;
Krol, Alfons;
Davies, Michael;
Kuang, Anna

Publication type:

Article

Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene.

Published in:

Pediatric Dermatology, 2013, v. 30, n. 6, p. e265, doi. 10.1111/pde.12065

By:

Nouri, Nayereh;
Aryani, Omid;
Nouri, Narges;
Kamalidehghan, Behnam;
Houshmand, Massoud

Publication type:

Article

Supravalvular aortic stenosis with bicuspid aortic valve in a patient with cutis laxa syndrome.

Published in:

QJM: An International Journal of Medicine, 2023, v. 116, n. 5, p. 396, doi. 10.1093/qjmed/hcac283

By:

Velayutham, R;
Ahmed, A S;
Malathi, M;
Jinkala, S

Publication type:

Article

A newborn with wrinkly skin: what is the diagnosis?

Published in:

Infant, 2021, v. 17, n. 3, p. 104

By:

Manjunatha, Chikkanayakanahalli M.;
Abourahma, Ahmed;
Ibhanesebhor, Samuel E.;
Mathews, Ashok Z.

Publication type:

Article

Clinical implications of de Barsy syndrome.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 1, p. 59, doi. 10.1111/pan.13283

By:

Warner, Lindsay L.;
Olsen, David A.;
Smith, Hugh M.

Publication type:

Article

Anaesthetic Management in a Child with Cutis Laxa for Bilateral Ureteric Reimplantation.

Published in:

Archives of Anesthesiology & Critical Care, 2021, v. 7, n. 3, p. 176

By:

Ramachandran, Haripriya;
Bhagya, Dammaningala Venkataramaiah

Publication type:

Article

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.852764

By:

Zhi, Xiufang;
Ai, Qi;
Sheng, Wenchao;
Yu, Yuping;
Shu, Jianbo;
Yu, Changshun;
Yu, Xiaoli;
Li, Dong;
Cai, Chunquan

Publication type:

Article

A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome).

Published in:

Lung (0341-2040), 2015, v. 193, n. 5, p. 815, doi. 10.1007/s00408-015-9757-z

By:

Payandeh, Jennifer;
McGillivray, Barbara;
McCauley, Graeme;
Wilcox, Pearce;
Swiston, John;
Lehman, Anna

Publication type:

Article

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.

Published in:

2018

By:

Oregel, Karlos Z.;
Shouse, Geoffrey P.;
Oster, Cyrus;
Martinez, Freddy;
Jun Wang;
Rosenzweig, Michael;
Deisch, Jeremy K.;
Chien-Shing Chen;
Nagaraj, Gayathri

Publication type:

Case Study

Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease.

Published in:

Indian Dermatology Online Journal, 2018, v. 9, n. 1, p. 44, doi. 10.4103/idoj.IDOJ_403_16

By:

Majithia, Reena A.;
George, Leni;
Thomas, Meera;
Fouzia, N. A.

Publication type:

Article

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.

Published in:

Indian Dermatology Online Journal, 2017, v. 8, n. 5, p. 352, doi. 10.4103/idoj.IDOJ_334_16

By:

Kumar, Rakesh;
Sharda, Sheetal;
Soni, Vimlesh;
Nambiyar1, Kaniyappan

Publication type:

Article

Cutis laxa autosomal recessive type II or wrinkly skin syndrome?

Published in:

2016

By:

Arora, Pooja;
Chakravarty, Payal;
Khanna, Deepshikha;
Gupta, Ruchika

Publication type:

Case Study

The Effect of Conjunctiva-Müller Muscle Resection on Tear Oxidative Stress Levels in Patients with Blepharoptosis.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2024, v. 54, n. 3, p. 133, doi. 10.4274/tjo.galenos.2024.02697

By:

Sert, Seda;
Arıcı, Ceyhun;
Mergen, Burak;
Ekmekçi, Özlem Balcı

Publication type:

Article

Evaluation of Periorbital Tissues in Obstructive Sleep Apnea Syndrome.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2020, v. 50, n. 6, p. 356, doi. 10.4274/tjo.galenos.2020.35033

By:

Karaca, Irmak;
Yağcı, Ayşe;
Palamar, Melis;
Taşbakan, Mehmet Sezai;
Başoğlu, Özen K.

Publication type:

Article

Effects of Upper Eyelid Blepharoplasty on Contrast Sensitivity in Dermatochalasis Patients.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2020, v. 50, n. 3, p. 151, doi. 10.4274/tjo.galenos.2019.95871

By:

Nalcı, Hilal;
Hoşal, Melek Banu;
Gündüz, Ömür Uçakhan

Publication type:

Article

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-36

By:

Hadj-Rabia, Smail;
Callewaert, Bert L.;
Bourrat, Emmanuelle;
Kempers, Marlies;
Plomp, Astrid S.;
Layet, Valerie;
Bartholdi, Deborah;
Renard, Marjolijn;
Backer, Julie De;
Malfait, Fransiska;
Vanakker, Olivier M.;
Coucke, Paul J.;
De Paepe, Anne M.;
Bodemer, Christine

Publication type:

Article

Investigating Long-Term Brow Stabilization by Endotine-Assisted Endoscopic Brow Lift with Concomitant Upper Lid Blepharoplasty.

Published in:

Annals of Otology, Rhinology & Laryngology, 2021, v. 130, n. 10, p. 1139, doi. 10.1177/0003489421997653

By:

Perez, Paloma Belle;
Gunter, Anne Elizabeth;
Moody, Minhee Pak;
Vincent, Aurora Grace;
Perez, Christian Rene;
Serra, Renee Makowski;
Hohman, Marc Hale

Publication type:

Article

Clinical and 123I-SAP scintigraphy findings in three members from a family affected by AGel amyloidosis.

Published in:

Amyloid, 2017, v. 24, p. 155, doi. 10.1080/13506129.2017.1284059

By:

van Rheenen, Ronald W. J.;
Hazenberg, Bouke P. C.;
Dierckx, Rudi A. J. O.;
Glaudemans, Andor W. J. M.

Publication type:

Article

Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis.

Published in:

Amyloid, 2016, v. 23, n. 4, p. 225, doi. 10.1080/13506129.2016.1238355

By:

Pihlamaa, Tiia;
Suominen, Sinikka;
Kiuru-Enari, Sari;
Tanskanen, Maarit

Publication type:

Article

VASCULAR, TYPE 4 EHLERS-DANLOS SYNDROME ASSOCIATED WITH WAARDENBURG SYNDROME TYPE 1.

Published in:

European Journal of Pediatric Dermatology, 2022, v. 32, n. 2, p. 114

By:

L., Garofalo

Publication type:

Article

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 4, p. 319, doi. 10.1002/mgg3.70

By:

Handley, Mark T.;
Mégarbané, André;
Meynert, Alison M.;
Brown, Stephen;
Freyer, Elisabeth;
Taylor, Martin S.;
Jackson, Ian J.;
Aligianis, Irene A.

Publication type:

Article