Works matching Weill-Marchesani syndrome

Results: 73

Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.

Published in:

BMC Ophthalmology, 2015, v. 15, n. 1, p. 21, doi. 10.1186/1471-2415-15-3

By:

Hui Guo;
Xinyi Wu;
Keli Cai;
Zhi Qiao

Publication type:

Article

Insufficiency of YAG Laser Iridotomy to Prevent Pupillary Block Glaucoma in a Microspherophakic Patient with Weill-Marchesani Syndrome.

Published in:

2018

By:

Yazgan, Serpil;
Çelik, Tuba;
Çelik, Erkan

Publication type:

Case Study

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66978-8

By:

Evans, Daniel R.;
Green, Jane S.;
Fahiminiya, Somayyeh;
Majewski, Jacek;
Fernandez, Bridget A.;
Deardorff, Matthew A.;
Johnson, Gordon J.;
Whelan, James H.;
Hubmacher, Dirk;
Apte, Suneel S.;
Care4Rare Canada Consortium;
Boycott, Kym;
Bulman, Dennis;
Dyment, David;
McKenzie, Alex;
Brudno, Michael;
Woods, Michael O.

Publication type:

Article

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1186, doi. 10.1038/ejhg.2014.264

By:

Steinkellner, Hannes;
Etzler, Julia;
Gogoll, Laura;
Neesen, Jürgen;
Stifter, Eva;
Brandau, Oliver;
Laccone, Franco

Publication type:

Article

Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1014188

By:

Mojiang Li;
Yingshu Li;
Huixing Liu;
Haiyan Zhou;
Wanqin Xie;
Qinghua Peng

Publication type:

Article

Secondary Angle Closure Glaucoma in Weill–Marchesani Syndrome.

Published in:

2024

By:

Coviltir, Valeria;
Burcel, Miruna Gabriela;
Marinescu, Maria Cristina;
Urse, Bianca Maria;
Danielescu, Ciprian

Publication type:

Case Study

Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.

Published in:

American Journal of Case Reports, 2021, v. 22, p. 1, doi. 10.12659/AJCR.930824

By:

Al Motawa, Mossa N. A.;
Al Shehri, Manal S. S.;
Al Buali, Majed J.;
Al Agnam, Amnah A. M.

Publication type:

Article

Oral and Dental Findings of A Child with Weill-Marchesani Syndrome Type II: A Case Report with 3-Year Follow-up.

Published in:

Selcuk Dental Journal, 2023, v. 10, n. 4, p. 332, doi. 10.15311/selcukdentj.1231513

By:

GÜÇYETMEZ TOPAL, Burcu;
ELMAS, Muhsin;
TIRAŞ, Melike

Publication type:

Article

Oral and Dental Findings of A Child with Weill-Marchesani Syndrome Type II: A Case Report with 3-Year Follow-up.

Published in:

Selcuk Dental Journal, 2023, v. 10, p. 332, doi. 10.15311/selcukdentj.1231513

By:

GÜÇYETMEZ TOPAL, Burcu;
ELMAS, Muhsin;
TIRAŞ, Melike

Publication type:

Article

ADAMTS10-mediated tissue disruption in Weill–Marchesani syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3675, doi. 10.1093/hmg/ddy276

By:

Mularczyk, Ewa J;
Singh, Mukti;
Godwin, Alan R F;
Galli, Francessco;
Humphreys, Neil;
Adamson, Antony D;
Mironov, Aleksandr;
Cain, Stuart A;
Sengle, Gerhard;
Boot-Handford, Ray P

Publication type:

Article

Tumour necrosis factor α, lipid peroxidation and NO • are increased and associated with decreased free-radical scavenging enzymes in patients with Weill-Marchesani syndrome.

Published in:

Mediators of Inflammation, 2004, v. 13, n. 3, p. 165, doi. 10.1080/09511920410001713547

By:

Evereklioglu, Cem;
Turkoz, Yusuf;
Calis, Mustafa;
Duygulu, Fuat;
Karabulut, Aysun B.

Publication type:

Article

A Pedigree Report of a Rare Case of Weill–Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations.

Published in:

Risk Management & Healthcare Policy, 2021, v. 14, p. 1785, doi. 10.2147/RMHP.S307290

By:

Lin, ZhiHong;
Zhu, MinJuan;
Deng, HongWei

Publication type:

Article

Anesthetic management of a patient with Weill-Marchesani syndrome.

Published in:

2003

By:

Dal, D.;
Şahin, A.;
Aypar, Ü.;
Sahin, A;
Aypar, U

Publication type:

journal article

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 473, doi. 10.1034/j.1399-0004.2000.580608.x

By:

Mégarbané, A;
Mustapha, M;
Bleik, J;
Waked, N;
Delague, V;
Loiselet, J

Publication type:

Article

Scheimpflug Imaging in Unilateral Acute Pupillary Block Glaucoma in a Weill-Marchesani Syndrome in an Adult Female.

Published in:

Journal of Postgraduate Medicine, Education & Research, 2012, v. 46, n. 3, p. 152, doi. 10.5005/jp-journals-10028-1034

By:

Chaudhary, Manish;
Ram, Jagat;
Gupta, Nishant;
Verma, Neelam

Publication type:

Article

Fibrin glue-assisted intraocular lens fixation in weill–Marchesani syndrome.

Published in:

Middle East African Journal of Ophthalmology, 2019, v. 26, n. 1, p. 33, doi. 10.4103/meajo.MEAJO_162_16

By:

Kalamkar, Charudutt;
Radke, Nishant;
Mukherjee, Amrita;
Radke, Snehal

Publication type:

Article

Surgical Treatment of Advanced Chronic Angle Closure Glaucoma in Weill--Marchesani Syndrome.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2004, v. 41, n. 5, p. 295, doi. 10.3928/01913913-20040901-08

By:

Harasymowycz, Paul;
Wilson, Richard

Publication type:

Article

Weill-Marchesani syndrome associated with retinitis pigmentosa.

Published in:

2007

By:

Jethani, Jitendra;
Mishra, Anurag;
Shetty, Shashikant;
Vijayalakshmi, P.

Publication type:

journal article

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Published in:

2016

By:

Reyes-Hernández, Octavio D.;
Palacios-Reyes, Carmen;
Chávez-Ocaña, Sonia;
Cortés-Malagón, Enoc M.;
Alonso-Themann, Patricia Garcia;
Ramos-Cano, Víctor;
Ramírez-Bello, Julián;
Sierra-Martínez, Mónica

Publication type:

journal article

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048634

By:

Cain, Stuart A.;
McGovern, Amanda;
Baldwin, Andrew K.;
Baldock, Clair;
Kielty, Cay M.

Publication type:

Article

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Published in:

Human Genetics, 2002, v. 110, n. 4, p. 366, doi. 10.1007/s00439-002-0689-3

By:

Faivre, Laurence;
Mégarbané, André;
Alswaid, Abdulrahman;
Zylberberg, Louise;
Aldohayan, Noura;
Campos-Xavier, Ana Belinda;
Bacq, Delphine;
Legeai-Mallet, Laurence;
Bonaventure, Jacky;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

LTBP2 Mutation in Autosomal Recessive Weill-Marchesani Syndrome.

Published in:: 2010
Publication type:: Abstract

Weill--Marchesani Syndrome.

Published in:: Journal of Pediatric Ophthalmology & Strabismus, 2006, v. 43, n. 3, p. 192, doi. 10.3928/01913913-20060301-17
Publication type:: Article

P.059 Weill-Marchesani Syndrome – a rare etiology for bilateral carpal tunnel syndrome in children.

Published in:

2024

By:

Chiu, H

Publication type:

Abstract

Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation.

Published in:

2011

By:

Bhakta, Pradipta;
Mady, Hatem Abdulghani;
Burad, Jyoti;
Tawfic, Qutaiba Amir

Publication type:

Letter

Mutations in <i>CERS3</i> Cause Autosomal Recessive Congenital Ichthyosis in Humans.

Published in:

PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003536

By:

Radner, Franz P. W.;
Marrakchi, Slaheddine;
Kirchmeier, Peter;
Kim, Gwang-Jin;
Ribierre, Florence;
Kamoun, Bourane;
Abid, Leila;
Leipoldt, Michael;
Turki, Hamida;
Schempp, Werner;
Heilig, Roland;
Lathrop, Mark;
Fischer, Judith

Publication type:

Article

Microenvironmental Regulation by Fibrillin-1.

Published in:

PLoS Genetics, 2012, v. 8, n. 1, p. 1, doi. 10.1371/journal.pgen.1002425

By:

Sengle, Gerhard;
Tsutsui, Ko;
Keene, Douglas R.;
Tufa, Sara F.;
Carlson, Eric J.;
Charbonneau, Noe L.;
Ono, Robert N.;
Sasaki, Takako;
Wirtz, Mary K.;
Samples, John R.;
Fessler, Liselotte I.;
Fessler, John H.;
Sekiguchi, Kiyotoshi;
Hayflick, Susan J.;
Sakai, Lynn Y.

Publication type:

Article

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

Published in:

Human Mutation, 2012, v. 33, n. 8, p. 1182, doi. 10.1002/humu.22105

By:

Haji-Seyed-Javadi, Ramona;
Jelodari-Mamaghani, Sahar;
Paylakhi, Seyed Hassan;
Yazdani, Shahin;
Nilforushan, Naveed;
Fan, Jian-Bing;
Klotzle, Brandy;
Mahmoudi, Mohammad Jafar;
Ebrahimian, Mohammad Jafar;
Chelich, Noori;
Taghiabadi, Ehsan;
Kamyab, Kambiz;
Boileau, Catherine;
Paisan-Ruiz, Coro;
Ronaghi, Mostafa;
Elahi, Elahe

Publication type:

Article

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.

Published in:

Human Mutation, 2008, v. 29, n. 12, p. 1425, doi. 10.1002/humu.20797

By:

Kutz, Wendy E.;
Wang, Lauren W.;
Dagoneau, Nathalie;
Odrcic, Kazimir J.;
Cormier-Daire, Valerie;
Traboulsi, Elias I.;
Apte, Suneel S.

Publication type:

Article

Bilateral Transient Pupil Closure after Iris Supported Intraocular Lens Implantation in a Case with Marfan Syndrome.

Published in:

2012

By:

Kara, Necip;
Bozkurt, Ercüment;
Yazici, Ahmet T.;
Demirok, Ahmet

Publication type:

Case Study

Isolated Ectopia Lentis in Suspect of Weill-Marchesani Syndrome (WMS).

Published in:

2022

By:

Arrachman, Priya Taufiq;
Sekartika, Ega;
Khanza, Mutia;
Rosarina, Dewi;
Dharmawidiarini, Dini;
Mahyuddin, Muhammad Hanun

Publication type:

Case Study

Asthma Discordance in Twins Is Linked to Epigenetic Modifications of T Cells.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048796

By:

Runyon, R. Scott;
Cachola, Leslie M.;
Rajeshuni, Nitya;
Hunter, Tessa;
Garcia, Marco;
Ahn, Regina;
Lurmann, Fred;
Krasnow, Ruth;
Jack, Lisa M.;
Miller, Rachel L.;
Swan, Gary E.;
Kohli, Arunima;
Jacobson, Amanda C.;
Nadeau, Kari C.

Publication type:

Article

Geleophysic dysplasia and Weill–Marchesani syndrome: ADAMTSL2 a possible common gene.

Published in:

Ophthalmic Genetics, 2024, v. 45, n. 5, p. 499, doi. 10.1080/13816810.2024.2358973

By:

Duzenli, Tarik;
Uysal, Betul Seher;
Ulas, Berkay;
Kayhan, Gulsum

Publication type:

Article

Systematic review of the psychosocial aspects of living with Marfan syndrome.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 109, doi. 10.1111/cge.12422

By:

Velvin, G.;
Bathen, T.;
Rand‐Hendriksen, S.;
Geirdal, A.Ø.

Publication type:

Article

Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2551, doi. 10.1002/ajmg.a.38353

By:

Newell, Kelsey;
Smith, Wendy;
Ghoshhajra, Brian;
Isselbacher, Eric;
Lin, Angela;
Lindsay, Mark E.

Publication type:

Article

More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3126, doi. 10.1002/ajmg.a.36161

By:

Pimienta, Allen L.;
Wilcox, William R.;
Reinstein, Eyal

Publication type:

Article

Similarity of geleophysic dysplasia and weill-marchesani syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3130, doi. 10.1002/ajmg.a.36147

By:

Kochhar, Aaina;
Kirmani, Salman;
Cetta, Frank;
Younge, Brian;
Hyland, James C.;
Michels, Virginia

Publication type:

Article

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2305, doi. 10.1002/ajmg.a.36044

By:

Cecchi, Alana;
Ogawa, Naomi;
Martinez, Hugo R.;
Carlson, Alicia;
Fan, Yuxin;
PENny, Daniel J.;
Guo, Dong ‐ chuan;
EisENberg, StevEN;
Safi, Hazim;
Estrera, Anthony;
Lewis, Richard A.;
Meyers, Deborah;
Milewicz, Dianna M.

Publication type:

Article

Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features.

Published in:

2016

By:

Lim, Su-Ho;
Son, Jun;
Cha, Soon

Publication type:

Report

Bilateral golden ring in the eye: Weill-Marchesani syndrome.

Published in:

2021

By:

RAJENDRABABU, SHARMILA;
SENTHILKUMAR, VIJAYALAKSHMI A.

Publication type:

Case Study

Isolated Spherophakia and Glaucoma.

Published in:

2013

By:

Pikkel, Joseph;
Irena, Epstein

Publication type:

Case Study

Bilateral clear lens extraction and intraocular lens implantation in a child with microspherophakia and Marfan syndrome.

Published in:

2019

By:

Godoy Farat, Joyce;
Nascimento Queiroz, Marjorie Fornazier;
Carlos Lottelli, Antonio

Publication type:

Case Study

Retrospective Study of Visual Outcomes and Complications After Sutureless, Flapless, and Glueless Intrascleral Fixation of Posterior Chamber Intraocular Lens in Children and Young Adults.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2017, v. 54, n. 6, p. 381, doi. 10.3928/01913913-20170703-10

By:

Prabu, V. Rajesh;
Kapoor, Smita;
Udayakumar, Swarna;
Gupta, Priyanka

Publication type:

Article

Weill-Marchesani syndrome in mother and son.

Published in:

Clinical Genetics, 1986, v. 30, n. 6, p. 475, doi. 10.1111/j.1399-0004.1986.tb01914.x

By:

Young, I. D.;
Fielder, A. R.;
Casey, T. A.

Publication type:

Article

Aneurysm of both coronary buttons in a Marfan patient after Bentall-De Bono operation.

Published in:

2017

By:

Muñoz-Guijosa, Christian;
Romero, Jose M. Cortina

Publication type:

Image

A Novel Missense Mutation in the TGF-ß-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability.

Published in:

Advanced Biomedical Research, 2023, v. 12, n. 4, p. 1, doi. 10.4103/abr.abr_138_22

By:

Hassani, Mahdieh;
Taghizadeh, Sara;
Broujeni, Anahita Farahzad;
Habibi, Mahvash;
Banitalebi, Setareh;
Kasiri, Mahbubeh;
Sadeghi, Alireza;
Nozari, Ahoura

Publication type:

Article

"Ousted little elf"--Secondary glaucoma in Weill-Marchesani syndrome.

Published in:

Kerala Journal of Ophthalmology, 2023, v. 35, n. 2, p. 139, doi. 10.4103/kjo.kjo_65_23

By:

KARTHYA, DEVI

Publication type:

Article

Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate.

Published in:

Journal of Anatomy, 2013, v. 223, n. 6, p. 641, doi. 10.1111/joa.12123

By:

Yu, Jing;
Urban, Jill

Publication type:

Article

A Novel Mutation in the ADAMTS10 Associated with Weil–Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8864, doi. 10.3390/ijms24108864

By:

Levitas, Aviva;
Aspit, Liam;
Lowenthal, Neta;
Shaki, David;
Krymko, Hanna;
Slanovic, Leonel;
Yagev, Ronit;
Parvari, Ruti

Publication type:

Article

The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.

Published in:

Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 596, doi. 10.3390/biom10040596

By:

Karoulias, Stylianos Z.;
Taye, Nandaraj;
Stanley, Sarah;
Hubmacher, Dirk

Publication type:

Article