Works matching DE "STICKLER syndrome"

Results: 66

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

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

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

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

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

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

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

Published in:

Human Genetics, 2015, v. 134, n. 4, p. 451, doi. 10.1007/s00439-015-1531-z

By:

Alzahrani, Fatema;
Al Hazzaa, Selwa;
Tayeb, Hamsa;
Alkuraya, Fowzan

Publication type:

Article

RETROSPECTIVE REVIEW OF STICKLER SYNDROME PATIENTS WITH CLEFT PALATE 1997-2004.

Published in:

ANZ Journal of Surgery, 2008, v. 78, n. 9, p. 764, doi. 10.1111/j.1445-2197.2008.04645.x

By:

Lee, Kai H.;
Hayward, Peter

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

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

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

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

Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients.

Published in:

Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 111S, doi. 10.1177/0003489415575044

By:

Iwasa, Yoh-ichiro;
Moteki, Hideaki;
Hattori, Mitsuru;
Sato, Ririko;
Nishio, Shin-ya;
Takumi, Yutaka;
Usami, Shin-ichi

Publication type:

Article

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligationdependent probe amplification (MLPA).

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-48

By:

Vijzelaar, Raymon;
Waller, Sarah;
Errami, Abdellatif;
Donaldson, Alan;
Lourenco, Teresa;
Rodrigues, Marcia;
McConnell, Vivienne;
Fincham, Gregory;
Snead, Martin;
Richards, Allan

Publication type:

Article

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

To push? or not to push?: Second stage management in a patient with Stickler syndrome at risk of retinal detachment.

Published in:

Journal of Obstetrics & Gynaecology, 2009, v. 29, n. 1, p. 61, doi. 10.1080/01443610802484427

By:

Sanderson, P.;
Byrd, L. M.

Publication type:

Article

Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report.

Published in:

European Review for Medical & Pharmacological Sciences, 2010, v. 14, n. 12, p. 1051

By:

PACELLA, E.;
MALVASI, A.;
TINELLI, A.;
LATERZA, F.;
DELL'EDERA, D.;
PACELLA, F.;
MAZZEO, F.;
FERRARESI, A.;
MALARSKA, K. G.;
CAVALLOTTI, C.

Publication type:

Article

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

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

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

Stickler syndrome.

Published in:

2015

By:

Rishi, Pukhraj;
Maheshwari, Abhilasha;
Rishi, Ekta

Publication type:

journal article

Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome.

Published in:

2010

By:

Al Kaissi, A.;
Roschger, P.;
Nawrot-Wawrzyniak, K.;
Krebs, A.;
Grill, F.;
Klaushofer, K.

Publication type:

journal article

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.

Published in:

2016

By:

Goyal, Manisha;
Kapoor, Seema;
Ikegawa, Shiro;
Nishimura, Gen

Publication type:

Case Study

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

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

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

Vitreous, Choroid, and Retina.

Published in:: 2008
Publication type:: Abstract

Tumor Lysis Syndrome.

Published in:

Current Medical Literature: Leukemia & Lymphoma, 2006, v. 14, n. 2, p. 29

By:

Raja, Shahzad G.

Publication type:

Article

Stickler syndrome associated with slipped capital femoral epiphysis.

Published in:

2010

By:

Baba, Tomonori;
Shitoto, Katsuo

Publication type:

Case Study

Mandibular distraction osteogenesis for neonates with Pierre Robin sequence and airway obstruction.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2012, v. 25, p. 133, doi. 10.3109/14767058.2012.715011

By:

Cicchetti, Roberto;
Cascone, Piero;
Caresta, Elena;
Papoff, Paola;
Miano, Silvia;
Cerasaro, Carla;
Ramieri, Valerio;
Midulla, Fabio;
Moretti, Corrado

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

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

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

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

Published in:

European Archives of Oto-Rhino-Laryngology, 2016, v. 273, n. 10, p. 3025, doi. 10.1007/s00405-016-3896-6

By:

Acke, Frederic;
Swinnen, Freya;
Malfait, Fransiska;
Dhooge, Ingeborg;
De Leenheer, Els

Publication type:

Article

Anesthetic management of a child with Stickler syndrome for palatoplasty.

Published in:

Research & Opinion in Anesthesia & Intensive Care, 2022, v. 9, n. 3, p. 250, doi. 10.4103/roaic.roaic_63_21

By:

Roy, Roniya Ann;
Rajan, Sunil;
Sasikumar, Niranjan Kumar;
Paul, Jerry

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

Arthritis in Stickler syndrome: Inflammatory or degenerative?

Published in:

2017

By:

Dhaon, Pooja;
Das, Siddharth;
Nolkha, Nilesh

Publication type:

Case Study

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