Works matching DE "STICKLER syndrome"

Results: 66

A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

Published in:

Osteoporosis International, 2018, v. 29, n. 1, p. 247, doi. 10.1007/s00198-017-4229-3

By:

Vogiatzi, M. G.;
Li, D.;
Tian, L.;
Garifallou, J. P.;
Kim, C. E.;
Hakonarson, H.;
Levine, M. A.

Publication type:

Article

Stickler syndrome associated with epilepsy: report of three cases.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 5, p. 697, doi. 10.1007/s00431-015-2514-8

By:

Savasta, Salvatore;
Salpietro, Vincenzo;
Spartà, Maria;
Foiadelli, Thomas;
Laino, Daniela;
Lobefalo, Lucio;
Marseglia, Gian;
Verrotti, Alberto

Publication type:

Article

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23

By:

Hoornaert, Kristien P.;
Vereecke, Inge;
Dewinter, Chantal;
Rosenberg, Thomas;
Beemer, Frits A.;
Leroy, Jules G.;
Bendix, Laila;
Björck, Erik;
Bonduelle, Maryse;
Boute, Odile;
Cormier-Daire, Valerie;
De Die-Smulders, Christine;
Dieux-Coeslier, Anne;
Dollfus, Hélène;
Elting, Mariet;
Green, Andrew;
Guerci, Veronica I.;
Hennekam, Raoul C. M.;
Hilhorts-Hofstee, Yvonne;
Holder, Muriel

Publication type:

Article

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

Published in:

2010

By:

Hoornaert, Kristien P;
Vereecke, Inge;
Dewinter, Chantal;
Rosenberg, Thomas;
Beemer, Frits A;
Leroy, Jules G;
Bendix, Laila;
Björck, Erik;
Bonduelle, Maryse;
Boute, Odile;
Cormier-Daire, Valerie;
De Die-Smulders, Christine;
Dieux-Coeslier, Anne;
Dollfus, Hélène;
Elting, Mariet;
Green, Andrew;
Guerci, Veronica I;
Hennekam, Raoul CM;
Hilhorts-Hofstee, Yvonne;
Holder, Muriel

Publication type:

Correction Notice

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 807, doi. 10.1038/sj.ejhg.5200377

By:

Martin, Sam;
Richards, Allan J;
Yates, John RW;
Scott, John D;
Pope, Michael;
Snead, Martin P

Publication type:

Article

Arthritis in Stickler syndrome: Inflammatory or degenerative?

Published in:

2017

By:

Dhaon, Pooja;
Das, Siddharth;
Nolkha, Nilesh

Publication type:

Case Study

Streptococcal pyomyositis in asplenia and underlying connective tissue disease.

Published in:

Baylor University Medical Center Proceedings, 2023, v. 36, n. 4, p. 518, doi. 10.1080/08998280.2023.2210483

By:

Nguyen, John;
Singh, Pardeep;
Gajjar, Tapas

Publication type:

Article

Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings.

Published in:

2018

By:

Kimura, Daisaku;
Sato, Takaki;
Oosuka, Shou;
Kohmoto, Ryohsuke;
Fukumoto, Masanori;
Mimura, Masashi;
Tajiri, Kensuke;
Kobayashi, Takatoshi;
Kida, Teruyo;
Ikeda, Tsunehiko

Publication type:

Case Study

A RARE CASE OF GROW RETARDATION ASSOCIATED TO DISGENETIC SYNDROME.

Published in:

Jurnalul Pediatrului, 2016, v. 19, n. 73/74, p. 35

By:

Belei, Oana;
Olariu, Laura;
Brad, Giorgiana;
I., Juganaru;
Mang, Niculina;
Stroescu, Ramona;
I., Cristun L.;
Marginean, Otilia

Publication type:

Article

Spondyloepiphyseal dysplasia tarda: four cases from two families.

Published in:

2009

By:

Bal, Serpil;
Kocyigit, Hikmet;
Turan, Yasemin;
Gurgan, Alev;
Bayram, Korhan;
Güvenc, Anıl;
Kocaaga, Zehra;
Dirim, Berna

Publication type:

Report

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Published in:

Eye (0950-222X), 2015, v. 29, n. 4, p. 475, doi. 10.1038/eye.2014.334

By:

Sergouniotis, P I;
Fincham, G S;
McNinch, A M;
Spickett, C;
Poulson, A V;
Richards, A J;
Snead, M P

Publication type:

Article

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Published in:

Eye (0950-222X), 2011, v. 25, n. 11, p. 1389, doi. 10.1038/eye.2011.201

By:

Snead, M P;
McNinch, A M;
Poulson, A V;
Bearcroft, P;
Silverman, B;
Gomersall, P;
Parfect, V;
Richards, A J

Publication type:

Article

The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies.

Published in:

Eye (0950-222X), 2008, v. 22, n. 10, p. 1243, doi. 10.1038/eye.2008.34

By:

Richards, A. J.;
Snead, M. P.

Publication type:

Article

Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe.

Published in:

Eye (0950-222X), 2006, v. 20, n. 9, p. 1061, doi. 10.1038/sj.eye.6702129

By:

MacRae, M. E.;
Patel, D. V.;
Richards, A. J.;
Snead, M. P.;
Tolmie, J.;
Lee, W. R.

Publication type:

Article

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.

Published in:

2006

By:

Yoshida, S.;
Yamaji, Y.;
Kuwahara, R.;
Yoshida, A.;
Hisatomi, T.;
Ueno, A.;
Ishibashi, T.

Publication type:

Letter

The Incidence of Velopharyngeal Insufficiency in Stickler Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2024, v. 61, n. 2, p. 231, doi. 10.1177/10556656221140675

By:

Swanson, Daniel;
Struyk, Griffin;
Ba'th, Fadlullah;
Chinnadurai, Sivakumar;
Roby, Brianne B.

Publication type:

Article

Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.

Published in:

Cleft Palate Craniofacial Journal, 2022, v. 59, n. 8, p. 970, doi. 10.1177/10556656211029519

By:

Bath, Fadlullah;
Swanson, Dan;
Zavala, Hanan;
Chinnadurai, Siva;
Roby, Brianne B.

Publication type:

Article

Surgical Management of Velopharyngeal Insufficiency Due to Unilateral Oropharyngeal Agenesis in a Patient With Stickler Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2021, v. 58, n. 9, p. 1190, doi. 10.1177/1055665620977414

By:

Wessinger, Bronson;
Kimura, Kyle;
Phillips, James;
Belcher, Ryan H.

Publication type:

Article

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 325, doi. 10.1111/cge.13465

By:

Chan, Tin K.;
Alkaabi, Mohammed K.;
ElBarky, Ahmed M.;
El‐Hattab, Ayman W.

Publication type:

Article

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 282, doi. 10.1111/cge.12265

By:

Schrauwen, I.;
Sommen, M.;
Claes, C.;
Pinner, J.;
Flaherty, M.;
Collins, F.;
Van Camp, G.

Publication type:

Article

Alternative splicing and retinal degeneration.

Published in:

Clinical Genetics, 2013, v. 84, n. 2, p. 142, doi. 10.1111/cge.12181

By:

Liu, M M;
Zack, D J

Publication type:

Article

Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography.

Published in:

2016

By:

Chen, Kevin;
Jung, Jesse;
Engelbert, Michael

Publication type:

Letter

Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic 'equals sign' landmark.

Published in:

2013

By:

Lituania, Mario;
Tonni, Gabriele

Publication type:

Editorial

Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2020, v. 50, n. 6, p. 387, doi. 10.4274/tjo.galenos.2020.33858

By:

Navarrete, Ana;
Kimchi, Adva;
Levy, Jaime;
Meiner, Vardiella;
Amer, Radgonde;
Yahalom, Claudia

Publication type:

Article

Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2018, v. 48, n. 2, p. 95, doi. 10.4274/tjo.60430

By:

Öztürk, Caner;
Sezenöz, Almila Sarıgül;
Yılmaz, Gürsel;
Akkoyun, İmren

Publication type:

Article

Ocular Manifestations in Patients with Sensorineural Hearing Loss.

Published in:

Journal of Ophthalmic & Vision Research, 2022, v. 17, n. 4, p. 551, doi. 10.18502/jovr.v17i4.12321

By:

Zaheer, Haniah A.;
Parameswarappa, Deepika C.;
Zaheer, Myra A.;
Chhablani, Jay;
Patil-Chhablani, Preeti

Publication type:

Article

Insilico Analysis and Characterization of Stickler Syndrome Associated Human Type II and Type XI Collagen Proteins.

Published in:

IUP Journal of Biotechnology, 2009, v. 3, n. 4, p. 18

By:

Sivakumar, K.

Publication type:

Article

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

Published in:

2017

By:

Higuchi, Yousuke;
Hasegawa, Kosei;
Yamashita, Miho;
Tanaka, Hiroyuki;
Tsukahara, Hirokazu

Publication type:

journal article

Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.

Published in:

Journal of Research in Medical Sciences, 2025, v. 30, n. 1, p. 1, doi. 10.4103/jrms.jrms_447_24

By:

Abolhasani, Fatemeh;
Abdali, Hossein;
Kazemi, Mohammad;
Attar, Bijan Movahedian;
Derakhshandeh, Fatemeh;
Hosseinzadeh, Majid

Publication type:

Article

Hearing impairment in Stickler syndrome: a systematic review.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 84, doi. 10.1186/1750-1172-7-84

By:

E. Acke, Frederic R.;
M. Dhooge, Ingeborg J.;
Malfait, Fransiska;
R. De Leenheer, Els M.

Publication type:

Article

Orthodontic Treatment of a Patient with Stickler Syndrome.

Published in:

2007

By:

Suda, Naoto;
Handa, Sachiko;
Higashihori, Norihisa;
Ogawa, Takuya;
Tsuji, Michiko;
Ohyama, Kimie

Publication type:

Case Study

Analysis of the vitreous membrane in a case of type 1 Stickler syndrome.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2009, v. 247, n. 5, p. 715, doi. 10.1007/s00417-008-1016-z

By:

Tadashi Yokoi;
Ryouhei Koide;
Kentaro Matsuoka;
Atsuko Nakagawa;
Noriyuki Azuma

Publication type:

Article

Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2007, v. 245, n. 11, p. 1633, doi. 10.1007/s00417-007-0609-2

By:

Poorna Abeysiri;
Catey Bunce;
Lyndon da Cruz

Publication type:

Article

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Published in:

Clinical & Experimental Ophthalmology, 2012, v. 40, n. 5, p. 476, doi. 10.1111/j.1442-9071.2012.02804.x

By:

Edwards, Thomas L;
Burt, Benjamin O;
Black, Graeme CM;
Perveen, Rahat;
Kearns, Lisa S;
Staffieri, Sandra E;
Toomes, Carmel;
Buttery, Robert G;
Mackey, David A

Publication type:

Article

Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome.

Published in:

Clinical Ophthalmology, 2016, v. 10, p. 1531, doi. 10.2147/OPTH.S111526

By:

Reddy, Devasis N.;
Yoshihiro Yonekawa;
Thomas, Benjamin J.;
Nudleman, Eric D.;
Williams, George A.

Publication type:

Article

Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia.

Published in:

Clinical Ophthalmology, 2016, v. 10, p. 1, doi. 10.2147/OPTH.S91444

By:

Alshahrani, Saeed T.;
Ghazi, Nicola G.;
Al-Rashaed, Saba

Publication type:

Article

Rare health conditions 34: Zellweger syndrome, Stickler syndrome, mucormycosis and Zollinger-Ellison syndrome.

Published in:

British Journal of Healthcare Assistants, 2020, v. 14, n. 4, p. 168, doi. 10.12968/bjha.2020.14.4.168

By:

Barber, Chris

Publication type:

Article

Retina ve Koryoidin İyi Huylu Vasküler Tümörleri.

Published in:: Retina-Vitreus/Journal of Retina-Vitreous, 2010, v. 18, n. 3, p. 183
Publication type:: Article

Stickler Sendromunda Mikrokornea.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2008, v. 16, n. 4, p. 303

By:

Borazan, Mehmet;
Akkoyun, İmren;
Karalezlı, Aylin;
Akova, Yonca Aydin

Publication type:

Article

Surgical treatment of vitreoretinal complications in a patient with Stickler syndrome type 1: a case report.

Published in:

Ophthalmology Journal (2450-7873), 2021, p. 113, doi. 10.5603/OJ.2021.0019

By:

Rivera-Valdivia, Nicolás;
Salgado-Cerrate, Carlos;
Cabal-López, Pablo;
Maeda-Yasunaga, Hiroshi;
Pacheco-Palomino, Laura;
Abdala-Caballero, Carlos

Publication type:

Article

Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome.

Published in:

2004

By:

Fujiwaki, Takehisa;
Nishimura, Gen;
Ohashi, Hirofumi;
Ito, Kazuyuki;
Kazama, Shigeyasu;
Ishioka, Chihiro

Publication type:

Case Study

P08.14: Stickler Syndrome with early onset intrauterine growth retardation and hypertension.

Published in:

Ultrasound in Obstetrics & Gynecology, 2013, v. 42, p. 144, doi. 10.1002/uog.13023

By:

Sathasivam, N.;
Patel, F.;
Mongelli, M.

Publication type:

Article

Stickler Syndrome Type 1 Accompanied by Membranous Vitreous Anomaly in Two Japanese Sisters.

Published in:

Seminars in Ophthalmology, 2014, v. 29, n. 1, p. 45, doi. 10.3109/13506129.2013.839805

By:

Suemori, Shinsuke;
Sawada, Akira;
Shiraki, Ikumi;
Mochizuki, Kiyofumi

Publication type:

Article

Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.

Published in:

2009

By:

Kaissi, Ali Al;
Klaushofer, Klaus;
Grill, Franz

Publication type:

Case Study

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.

Published in:

Mammalian Genome, 2010, v. 21, n. 7/8, p. 398, doi. 10.1007/s00335-010-9276-4

By:

Goldstein, Orly;
Guyon, Richard;
Kukekova, Anna;
Kuznetsova, Tatyana N.;
Pearce-Kelling, Susan E.;
Johnson, Jennifer;
Aguirre, Gustavo D.;
Acland, Gregory M.

Publication type:

Article

Adult presentation of Stickler syndrome type III.

Published in:

2010

By:

Li, Kayi;
Thorne, Carter

Publication type:

Report

Musculoskeletal and Gait Characteristics in Patients with Stickler Syndrome: A Cross-Sectional Study.

Published in:

Children, 2022, v. 9, n. 12, p. 1895, doi. 10.3390/children9121895

By:

Fernández-Pérez, Juan José;
Mascaraque-Ruiz, Paloma;
Martín-Gómez, Carlos;
Martínez-Caballero, Ignacio;
Otón, Teresa;
Carmona, Loreto;
Lerma-Lara, Sergio

Publication type:

Article

Quality of Life in Children and Adolescents with Stickler Syndrome in Spain.

Published in:

Children, 2022, v. 9, n. 8, p. 1255, doi. 10.3390/children9081255

By:

Fernández-Pérez, Juan José;
Mascaraque-Ruiz, Paloma;
Martín Gómez, Carlos;
Martínez-Caballero, Ignacio;
Otón, Teresa;
Carmona, Loreto;
Lara, Sergio Lerma

Publication type:

Article

Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0730-6

By:

Yang, Lulu;
Zhang, Chenhui;
Wang, Wei;
Wang, Junqi;
Xiao, Yuan;
Lu, Wenli;
Ma, Xiaoyu;
Chen, Lifen;
Ni, Jihong;
Wang, Defen;
Shi, Jinxiu;
Dong, Zhiya

Publication type:

Article

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0671-0

By:

Riise, N.;
Lindberg, B. R.;
Kulseth, M. A.;
Fredwall, S. O.;
Lundby, R.;
Estensen, M.-E.;
Drolsum, L.;
Merckoll, E.;
Krohg-Sørensen, K.;
Paus, B.

Publication type:

Article