Works matching DE "SKELETAL dysplasia"

Results: 544

Prosthetic Rehabilitation of a Cleidocranial Dysplasia Patient with Vertical Maxillofacial Deficiency: A Clinical Report.

Published in:

Journal of Prosthodontics (John Wiley & Sons, Inc.), 2014, v. 23, n. 1, p. 64, doi. 10.1111/jopr.12056

By:

Noh, Kwantae;
Kwon, Kung‐Rock;
Ahn, Hyowon;
Paek, Janghyun;
Pae, Ahran

Publication type:

Article

Fatty filum terminale and low-lying conus medullaris in Gollop-Wolfgang complex: a case report and review of literature.

Published in:

Child's Nervous System, 2023, v. 39, n. 2, p. 517, doi. 10.1007/s00381-022-05679-1

By:

Tankam, Cyril S.;
Peterson, Mallory R.;
Tachie-Baffour, Yaw;
Zammar, Samer;
Rizk, Elias B.

Publication type:

Article

Occipitocervical instrumented fixation utilising patient-specific C2 3D-printed spinal screw trajectory guides in complex paediatric skeletal dysplasia.

Published in:

Child's Nervous System, 2021, v. 37, n. 8, p. 2643, doi. 10.1007/s00381-021-05260-2

By:

Vakharia, Vejay N.;
Smith, Luke;
Tahir, Zubair;
Sparks, Rachel;
Ourselin, Sebastien;
Tucker, Stewart;
Thompson, Dominic

Publication type:

Article

Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome.

Published in:

Child's Nervous System, 2020, v. 36, n. 8, p. 1785, doi. 10.1007/s00381-020-04561-2

By:

Moon, EunJi;
Lee, Subum;
Chong, Sangjoon;
Park, Jin Hoon

Publication type:

Article

Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis.

Published in:

Child's Nervous System, 2019, v. 35, n. 6, p. 1059, doi. 10.1007/s00381-018-04035-6

By:

Tan, Ai Peng;
Priego, Gema

Publication type:

Article

Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement.

Published in:

Child's Nervous System, 2015, v. 31, n. 1, p. 129, doi. 10.1007/s00381-014-2559-4

By:

Bosemani, Thangamadhan;
Orman, Gunes;
Hergan, Benedikt;
Carson, Kathryn;
Huisman, Thierry;
Poretti, Andrea

Publication type:

Article

Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map.

Published in:

Quality of Life Research, 2023, v. 32, n. 10, p. 2751, doi. 10.1007/s11136-023-03431-z

By:

Moy, Naomi;
Flynn, Darren;
Henriquez, Josefa;
Connelly, Luke B.;
Vale, Luke;
Paolucci, Francesco

Publication type:

Article

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

Published in:

2019

By:

Jennings, Sarah E.;
Ditro, Colleen P.;
Bober, Michael B.;
Mackenzie, William G.;
Rogers, Kenneth J.;
Conway, Laura;
Duker, Angela L.

Publication type:

journal article

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.

Published in:

2017

By:

Dhiman, Nitasha;
Albaghdadi, Alia;
Sharma, Meesha;
Julie E. Hoover-Fong;
Ain, Michael C.;
Haider, Adil H.;
Zogg, Cheryl K.;
Hoover-Fong, Julie E

Publication type:

journal article

Loss of ninein interferes with osteoclast formation and causes premature ossification.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.93457

By:

Gilbert, Thierry;
Gorlt, Camille;
Barbier, Merlin;
Duployer, Benjamin;
Plozza, Marianna;
Dufrancais, Ophélie;
Martet, Laure-Elene;
Dalbard, Elisa;
Segot, Loelia;
Tenailleau, Christophe;
Haren, Laurence;
Vérollet, Christel;
Bierkamp, Christiane;
Merdes, Andreas

Publication type:

Article

Tmem263 deletion disrupts the GH/IGF1 axis and causes dwarfism and impairs skeletal acquisition.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.90949

By:

Sarver, Dylan C.;
Garcia-Diaz, Jean;
Saqib, Muzna;
Riddle, Ryan C.;
Wong, G. William

Publication type:

Article

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70062

By:

Cui, Li‐min;
Hu, Hua‐ying;
Zhai, Xiao‐mei;
Qi, Ming‐fei;
Liu, Yan‐ming;
Han, Cong‐ying;
Zhang, Jing;
Shen, Ming;
Xiang, Yu‐lan;
Chen, Wen‐qi;
Yang, Kai;
Zhang, Dong‐liang;
Xing, Huan‐xia

Publication type:

Article

Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review.

Published in:

2024

By:

Wang, Jing;
Yu, Huijun;
Zhang, Xiaoying;
Zhou, Xiuyun;
Tan, Ya;
Li, Zhi;
Gu, Ying;
Lin, Li

Publication type:

Case Study

A monoallelic UXS1 variant associated with short‐limbed short stature.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2472

By:

Rustad, Cecilie F.;
Backe, Paul Hoff;
Jin, Chunsheng;
Merckoll, Else;
Tveten, Kristian;
Maciej‐Hulme, Marissa Lucy;
Karlsson, Niclas;
Prescott, Trine;
Sand, Elise Sandås;
Woldseth, Berit;
Elgstøen, Katja Benedikte Prestø;
Holla, Øystein L.

Publication type:

Article

Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2308

By:

Tian, Xinyuan;
Zhang, Xiaoni;
Zhang, Qinghua;
Chen, Xue;
Zhou, Bingbo;
Ma, Panpan;
zheng, Lei;
Hao, Shengju;
Ling, Junhe;
Zhang, Chuan;
Hui, Ling

Publication type:

Article

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.

Published in:

2024

By:

Wang, Jie;
Zhao, Chaoyue;
Zhang, Xin;
Yang, Li;
Hu, Yanyan

Publication type:

Case Study

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome.

Published in:

2023

By:

Zhuang, Jianlong;
Liu, Shufen;
Wang, Junyu;
Chen, Yu'e;
Zhang, Hegan;
Jiang, Yuying;
Wang, Gaoxiong;
Chen, Chunnuan

Publication type:

Case Study

A homozygous EVC mutation in a prenatal fetus with Ellis–van Creveld syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2183

By:

Wang, Jie;
Wang, Xiaohua;
Jia, Yueqi;
Li, Xiangnan;
Liu, Guohui;
Sa, Rula;
Yu, Haiquan

Publication type:

Article

Clinical features and molecular characterization of Chinese patients with FKBP10 variants.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2122

By:

Tan, Zhijia;
Shek, Hiu Tung;
Chen, Peikai;
Dong, Zhongxin;
Zhou, Yapeng;
Yin, Shijie;
Qiu, Anmei;
Dong, Lina;
Gao, Bo;
To, Michael Kai Tsun

Publication type:

Article

Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 11, p. 1, doi. 10.1002/mgg3.2039

By:

Li, Hua‐Wei;
Ma, Bing‐Xiang;
Kong, Ya‐Min;
Zheng, Hong;
Zhang, Xue‐Yuan

Publication type:

Article

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1926

By:

Persico, Ilaria;
Feresin, Agnese;
Faleschini, Michela;
Fontana, Giorgia;
Sirchia, Fabio;
Faletra, Flavio;
La Bianca, Martina;
Suergiu, Sarah;
Morgutti, Marcello;
Maschio, Massimo;
D'Adamo, Adamo Pio;
Raraigh, Karen S.;
Savoia, Anna;
Bottega, Roberta

Publication type:

Article

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1904

By:

Markova, Tatiana Vladimirovna;
Kenis, Vladimir;
Melchenko, Evgeniy;
Guseva, Darya;
Osipova, Darya;
Galeeva, Nailya;
Nagornova, Tatiana;
Dadali, Elena Leonidovna

Publication type:

Article

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1767

By:

Braun, Frederik;
Gangfuß, Andrea;
Stöbe, Petra;
Haack, Tobias B.;
Schweiger, Bernd;
Roos, Andreas;
Schara, Ulrike

Publication type:

Article

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1761

By:

Liu, Haifeng;
Tao, Na;
Wang, Yan;
Yang, Yang;
He, Xiaoli;
Zhang, Yu;
Zhou, Yuantao;
Liu, Xiaoning;
Feng, Xingxing;
Sun, Meiyuan;
Xu, Fang;
Su, Yanfang;
Li, Li

Publication type:

Article

Identification of novel mutation in RANKL by whole‐exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1727

By:

Lertwilaiwittaya, Pongtawat;
Suktitipat, Bhoom;
Khongthon, Phongphak;
Pongsapich, Warut;
Limwongse, Chanin;
Pithukpakorn, Manop

Publication type:

Article

Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1668

By:

Wu, Huixiao;
Wang, Shuping;
Li, Guimei;
Yao, Yangyang;
Wang, Ning;
Sun, Xiaoqing;
Fang, Li;
Jiang, Xiuyun;
Zhao, Jiajun;
Wang, Yanzhou;
Xu, Chao

Publication type:

Article

Mutant COMP shapes growth and development of skull and facial structures in mice and humans.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1251

By:

Burger, Alexander;
Roosenboom, Jasmien;
Hossain, Mohammad;
Weinberg, Seth M.;
Hecht, Jacqueline T.;
Posey, Karen L.

Publication type:

Article

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1205

By:

Tsang, Mandy H. Y.;
Chiu, Annie T. G.;
Kwong, Bernard M. H.;
Liang, Rui;
Yu, Mullin H. C.;
Yeung, Kit‐San;
Ho, Wetor H. L.;
Mak, Christopher C. Y.;
Leung, Gordon K. C.;
Pei, Steven L. C.;
Fung, Jasmine L. F.;
Wong, Virginia C. N.;
Muntoni, Francesco;
Chung, Brian H. Y.;
Chan, Sophelia H. S.

Publication type:

Article

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1148

By:

Nagata, Tadashi;
Matsushita, Masaki;
Mishima, Kenichi;
Kamiya, Yasunari;
Kato, Kohji;
Toyama, Miho;
Ogi, Tomoo;
Ishiguro, Naoki;
Kitoh, Hiroshi

Publication type:

Article

Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1105

By:

Li, Ruibing;
Wang, Jianan;
Wang, Longxia;
Lu, Yanping;
Wang, Chengbin

Publication type:

Article

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.885

By:

Huang, Xiangjun;
Guo, Yi;
Xu, Hongbo;
Yang, Zhijian;
Deng, Xiong;
Deng, Hao;
Yuan, Lamei

Publication type:

Article

A case study of atypical Larsen syndrome with absent hallmark joint dislocations.

Published in:

2019

By:

Kodra, Neslida;
Diamonstein, Callie;
Hauser, Natalie S.

Publication type:

Case Study

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.566

By:

Hines, Stephanie L.;
Richter, John E.;
Mohammad, Ahmed N.;
Mahim, Jain;
Atwal, Paldeep S.;
Caulfield, Thomas R.

Publication type:

Article

Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.

Published in:

2018

By:

Basalom, Shuaa;
Trakadis, Yannis;
Shear, Roberta;
Azouz, Michel E.;
De Bie, Isabelle

Publication type:

Case Study

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 497, doi. 10.1002/mgg3.96

By:

Xue, Yuan;
Sun, Angela;
Mekikian, P. Betty;
Martin, Jorge;
Rimoin, David L.;
Lachman, Ralph S.;
Wilcox, William R.

Publication type:

Article

EP06.28: Multiple fracture newborn after Caesarean delivery: an osteogenesis imperfecta – a case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 218, doi. 10.1002/uog.19873

By:

Suparman, E.

Publication type:

Article

EP06.26: Prenatal diagnosis of achondroplasia: case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 217, doi. 10.1002/uog.19871

By:

Krishna, M.;
Respati, G.;
Salim, A.

Publication type:

Article

EP06.05: A retrospective study on prenatal diagnosis of skeletal dysplasias in Chinese.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 213, doi. 10.1002/uog.19850

By:

Chen, J.;
Huang, W.;
Xie, Y.;
Jian, W.;
Chen, F.;
Zhang, W.;
Li, S.;
Chen, M.;
Chen, D.

Publication type:

Article

EP06.01: Evaluation of fetal computed tomography and ultrasound examinations for prenatal diagnosis of fetal hypophosphatasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 211, doi. 10.1002/uog.19846

By:

Shinichi, N.;
Kobori, S.;
Toshimitsu, M.;
Murotsuki, J.;
Yaegashi, N.

Publication type:

Article

EP05.14: Clinically useful fetal growth charts: is it the time to modify all available fetal growth charts?

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 211, doi. 10.1002/uog.19844

By:

Acharya, P.;
Acharya, A.;
Acharya, F.;
Sutaria, R.

Publication type:

Article

EP05.13: Fetal biometry and growth curve of long bones.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 210, doi. 10.1002/uog.19843

By:

Acharya, P.;
Putha, S.;
Sutaria, R.;
Acharya, H.;
Acharya, A.

Publication type:

Article

EP05.05: Fetal femur/foot ratio for Indian population.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 208, doi. 10.1002/uog.19835

By:

Acharya, P.;
Putha, S.;
Sutaria, R.;
Acharya, F.;
Acharya, H.

Publication type:

Article

P05.10: Using whole‐exome sequencing in prenatal diagnosis of severe fetal abnormalities.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 155, doi. 10.1002/uog.19665

By:

Kramer, D.;
Schiffer, V.;
Arens, Y.;
Al Nasiry, S.

Publication type:

Article

P05.05: Prenatal presentation of fibrochondrogenesis: a rare lethal skeletal dysplasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 153, doi. 10.1002/uog.19660

By:

Langdon, F.H.;
Dickinson, J.E.;
McKenzie, F.;
Gill, A.

Publication type:

Article

P02.09: Prenatal diagnosis and genetic counselling of FGFR3 gene‐related fetal skeletal dysplasia with analysis of 13 clinical cases.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 144, doi. 10.1002/uog.19633

By:

Liu, Y.;
Wu, Q.

Publication type:

Article

OC20.02: Prenatal diagnosis by chromosome microarray analysis and whole‐exome sequencing for fetuses with skeletal dysplasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 48, doi. 10.1002/uog.19340

By:

He, M.;
Hong‐Ning, X.

Publication type:

Article

EP13.06: Prenatal diagnosis of Ellis-van Creveld syndrome (EVCS): a case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 313, doi. 10.1002/uog.18513

By:

Tsurane, K.

Publication type:

Article

P09.09: Ultrasonographic clues for prenatal diagnosis of FGFR3-related skeletal dysplasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 183, doi. 10.1002/uog.18089

By:

Jeong, B.;
Shim, J.;
Cho, H.;
Hwang, K.

Publication type:

Article

EP07.01: Non-lethal skeletal dysplasia: a 25 year-old with isolated fetal femoral fracture.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 289, doi. 10.1002/uog.18427

By:

Oluyomi-Obi, T.F.

Publication type:

Article

Crystal Vue technique for imaging fetal spine and ribs.

Published in:

2016

By:

Dall'Asta, A.;
Paramasivam, G.;
Lees, C. C.

Publication type:

journal article