Works matching DE "SKELETAL dysplasia"

Results: 520

Osteogenesis Imperfecta from Bench to Bedside and from Cradle to Grave.

Published in:

Calcified Tissue International, 2024, v. 115, n. 6, p. 775, doi. 10.1007/s00223-024-01304-2

By:

Folkestad, Lars;
Ralston, Stuart H.

Publication type:

Article

Update on the Genetics of Osteogenesis Imperfecta.

Published in:

Calcified Tissue International, 2024, v. 115, n. 6, p. 891, doi. 10.1007/s00223-024-01266-5

By:

Jovanovic, Milena;
Marini, Joan C.

Publication type:

Article

A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.

Published in:

Calcified Tissue International, 2024, v. 115, n. 6, p. 873, doi. 10.1007/s00223-024-01248-7

By:

Sillence, David Owen

Publication type:

Article

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.

Published in:

Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0

By:

Carroll, Ricki S.;
Olney, Robert C.;
Duker, Angela L.;
Coghlan, Ryan F.;
Mackenzie, William G.;
Ditro, Colleen P.;
Brown, Cassondra J.;
O'Connell, David A.;
Horton, William A.;
Johnstone, Brian;
Espiner, Eric A.;
Prickett, Timothy C. R.;
Bober, Michael B.

Publication type:

Article

A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.

Published in:

Calcified Tissue International, 2015, v. 96, n. 5, p. 373, doi. 10.1007/s00223-015-9963-y

By:

Huang, Xianglan;
Qi, Xuan;
Li, Mei;
Wang, Ou;
Jiang, Yan;
Xing, Xiaoping;
Hu, Ying;
Xia, Weibo

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

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.

Published in:

Nature, 2014, v. 513, n. 7519, p. 507, doi. 10.1038/nature13775

By:

Yamashita, Akihiro;
Morioka, Miho;
Kishi, Hiromi;
Yahara, Yasuhito;
Okada, Minoru;
Fujita, Kaori;
Kimura, Takeshi;
Sawai, Hideaki;
Ikegawa, Shiro;
Tsumaki, Noriyuki

Publication type:

Article

SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia.

Published in:

JCEM Case Reports, 2024, v. 2, n. 8, p. 1, doi. 10.1210/jcemcr/luae144

By:

Cebeci, Ayse Nurcan;
Hebert, Steven;
Reutter, Heiko;
Rompel, Oliver;
Woelfle, Joachim

Publication type:

Article

A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age.

Published in:

JCEM Case Reports, 2023, v. 1, n. 4, p. 1, doi. 10.1210/jcemcr/luad096

By:

Berti, Sabrina;
Luppi, Elena;
Seri, Marco;
Zavatta, Guido

Publication type:

Article

Anesthesia Management in an Acondroplasic Patient Developing Cardiac Tamponade Due to Myxedema.

Published in:

2020

By:

URAL, Sedef Gülçin;
GÜNGÖR, Dilruba;
GÜLAŞTI, Ömer Faruk

Publication type:

Case Study

Síndrome de Jeune tipo II clínico y enfermedad renal crónica terminal. Reporte de caso.

Published in:

Revista de Nefrología Diálisis y Trasplante, 2024, v. 44, n. 3, p. 151

By:

Aralde, Adriana;
Analía Fernández, Silvia;
Isabel Barros, María;
Montanari, Daniela;
Correa Uriburu, Clemencia

Publication type:

Article

Lamin B Receptor: Interplay between Structure, Function and Localization.

Published in:

Cells (2073-4409), 2017, v. 6, n. 3, p. 28, doi. 10.3390/cells6030028

By:

Nikolakaki, Eleni;
Mylonis, Ilias;
Giannakouros, Thomas

Publication type:

Article

MiR-29a Family as a Key Regulator of Skeletal Muscle Dysplasia in a Porcine Model of Intrauterine Growth Retardation.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 9, p. 1193, doi. 10.3390/biom12091193

By:

Zhu, Yan;
Ma, Jianfeng;
Pan, Hongmei;
Gan, Mailin;
Shen, Linyuan

Publication type:

Article

T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent.

Published in:

Frontiers in Immunology, 2022, v. 13, p. 01, doi. 10.3389/fimmu.2022.979722

By:

Marin, Ana V.;
Jiménez-Reinoso, Anaïs;
Mazariegos, Marina S.;
Román-Ortiz, Elena;
Regueiro, José R.

Publication type:

Article

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2019.01383

By:

Gomes, Caio Perez;
Marins, Maryana Mara;
Motta, Fabiana Louise;
Kyosen, Sandra Obikawa;
Curiati, Marco Antonio;
D'Almeida, Vânia;
Martins, Ana Maria;
Pesquero, João Bosco

Publication type:

Article

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00504

By:

Laugel-Haushalter, Virginie;
Bär, Séverine;
Schaefer, Elise;
Stoetzel, Corinne;
Geoffroy, Véronique;
Alembik, Yves;
Kharouf, Naji;
Huckert, Mathilde;
Hamm, Pauline;
Hemmerlé, Joseph;
Manière, Marie-Cécile;
Friant, Sylvie;
Dollfus, Hélène;
Bloch-Zupan, Agnès

Publication type:

Article

Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia.

Published in:

2018

By:

Jacob, Marianne;
Menon, Surabhi;
Botti, Christina;
Marshall, Ian

Publication type:

Case Study

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

Published in:

Lupus, 2025, v. 34, n. 1, p. 108, doi. 10.1177/09612033241301506

By:

Firat Senturk, Esra;
Ayvaz, Bilal Berke;
Firtina, Sinem;
Ugurlu, Serdal

Publication type:

Article

Detection of genetic mutations underlying early-onset systemic lupus erythematosus.

Published in:

2024

By:

Sener, Seher;
Sag, Erdal;
Han, Xu;
Bilginer, Yelda;
Zhou, Qing;
Ozen, Seza

Publication type:

Case Study

Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.

Published in:

2016

By:

Bilginer, Y.;
Düzova, A.;
Topaloğlu, R.;
Batu, E. D.;
Boduroğlu, K.;
Güçer, Ş;
Bodur, İ;
Alanay, Y.

Publication type:

Case Study

Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.

Published in:

Thyroid, 2021, v. 31, n. 7, p. 1114, doi. 10.1089/thy.2020.0391

By:

Di Cicco, Emery;
Moran, Carla;
Visser, W. Edward;
Nappi, Annarita;
Schoenmakers, Erik;
Todd, Pamela;
Lyons, Greta;
Dattani, Mehul;
Ambrosio, Raffaele;
Parisi, Silvia;
Salvatore, Domenico;
Chatterjee, Krishna;
Dentice, Monica

Publication type:

Article

Genetic and Pharmacological Targeting of Transcriptional Repression in Resistance to Thyroid Hormone Alpha.

Published in:

Thyroid, 2019, v. 29, n. 5, p. 726, doi. 10.1089/thy.2018.0399

By:

Freudenthal, Bernard;
Shetty, Samiksha;
Butterfield, Natalie C.;
Logan, John G.;
Han, Cho Rong;
Zhu, Xuguang;
Astapova, Inna;
Hollenberg, Anthony N.;
Cheng, Sheue-Yann;
Bassett, J.H. Duncan;
Williams, Graham R.

Publication type:

Article

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33025-1

By:

Zhang, Weichao;
Yang, Xi;
Li, Yingxiang;
Yu, Linchen;
Zhang, Bokai;
Zhang, Jianchao;
Cho, Woo Jung;
Venkatarangan, Varsha;
Chen, Liang;
Burugula, Bala Bharathi;
Bui, Sarah;
Wang, Yanzhuang;
Duan, Cunming;
Kitzman, Jacob O.;
Li, Ming

Publication type:

Article

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.

Published in:

2017

By:

Takanori Utsumi;
Satoshi Okada;
Kazushi Izawa;
Yoshitaka Honda;
Gen Nishimura;
Ryuta Nishikomori;
Rika Okano;
Masao Kobayashi

Publication type:

Case Study

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants.

Published in:

Hormone Research in Paediatrics, 2020, v. 93, n. 3, p. 164, doi. 10.1159/000508500

By:

Gerver, Willem J.M.;
Gkourogianni, Alexandra;
Dauber, Andrew;
Nilsson, Ola;
Wit, Jan M.

Publication type:

Article

Plasma C-Type Natriuretic Peptide: Emerging Applications in Disorders of Skeletal Growth.

Published in:

Hormone Research in Paediatrics, 2018, v. 90, n. 6, p. 345, doi. 10.1159/000496544

By:

Espiner, Eric;
Prickett, Tim;
Olney, Robert

Publication type:

Article

Growth Hormone Treatment in Patients with Hypochondroplasia.

Published in:

Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 353, doi. 10.1159/000369169

By:

Regelmann, Molly O.;
Rapaport, Robert

Publication type:

Article

Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort.

Published in:

Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 355, doi. 10.1159/000364807

By:

Pinto, Graziella;
Cormier-Daire, Valérie;
Le Merrer, Martine;
Samara-Boustani, Dinane;
Baujat, Geneviève;
Fresneau, Laurence;
Viaud, Magali;
Souberbielle, Jean Claude;
Pineau, Jean Claude;
Polak, Michel

Publication type:

Article

Whole Exome Sequencing to Identify Genetic Causes of Short Stature.

Published in:

Hormone Research in Paediatrics, 2014, v. 82, n. 1, p. 44, doi. 10.1159/000360857

By:

Guo, Michael H.;
Shen, Yiping;
Walvoord, Emily C.;
Miller, Timothy C.;
Moon, Jennifer E.;
Hirschhorn, Joel N.;
Dauber, andrew

Publication type:

Article

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.

Published in:

Genes, 2024, v. 15, n. 9, p. 1169, doi. 10.3390/genes15091169

By:

Bartolotti, Isabella;
Sobul, Klaudia;
Corsini, Serena;
Scognamiglio, Davide;
Moroni, Alice;
Gnoli, Maria;
Sangiorgi, Luca;
Pedrini, Elena

Publication type:

Article

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.

Published in:

Genes, 2024, v. 15, n. 2, p. 225, doi. 10.3390/genes15020225

By:

Ouedraogo, Zangbéwendé Guy;
Janel, Caroline;
Janin, Alexandre;
Millat, Gilles;
Langlais, Sarah;
Pontier, Bénédicte;
Biard, Marie;
Lepage, Mathis;
Francannet, Christine;
Laffargue, Fanny;
Creveaux, Isabelle

Publication type:

Article

A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy—Case Report and Literature Review.

Published in:

2023

By:

Vankevičienė, Karolina;
Matulevičienė, Aušra;
Mazgelytė, Eglė;
Paliulytė, Virginija;
Vankevičienė, Ramunė;
Ramašauskaitė, Diana

Publication type:

Case Study

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

Published in:

Genes, 2023, v. 14, n. 4, p. 877, doi. 10.3390/genes14040877

By:

Vodopiutz, Julia;
Steurer, Lisa-Maria;
Haufler, Florentina;
Laccone, Franco;
Garczarczyk-Asim, Dorota;
Hilkenmeier, Matthias;
Steinbauer, Philipp;
Janecke, Andreas R.

Publication type:

Article

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.

Published in:

Genes, 2023, v. 14, n. 2, p. 510, doi. 10.3390/genes14020510

By:

Bakar, Abu;
Shams, Sulaiman;
Bibi, Nousheen;
Ullah, Asmat;
Ahmad, Wasim;
Jelani, Musharraf;
Muthaffar, Osama Yousef;
Abdulkareem, Angham Abdulrhman;
Abujamel, Turki S.;
Haque, Absarul;
Naseer, Muhammad Imran;
Khan, Bushra

Publication type:

Article

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Published in:

Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199

By:

Sforza, Elisabetta;
Margiotta, Gaia;
Giorgio, Valentina;
Limongelli, Domenico;
Proli, Francesco;
Kuczynska, Eliza Maria;
Leoni, Chiara;
De Rose, Cristina;
Trevisan, Valentina;
Romeo, Domenico Marco;
Calandrelli, Rosalinda;
De Corso, Eugenio;
Massimi, Luca;
Palmacci, Osvaldo;
Rigante, Donato;
Zampino, Giuseppe;
Onesimo, Roberta

Publication type:

Article

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Published in:

2022

By:

Ghafoor, Saima;
Silveira, Karina da Costa;
Qamar, Raheel;
Azam, Maleeha;
Kannu, Peter

Publication type:

Case Study

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.

Published in:

Genes, 2022, v. 13, n. 9, p. 1578, doi. 10.3390/genes13091578

By:

Yang, Kai;
Liu, Yan;
Wu, Jue;
Zhang, Jing;
Hu, Hua-ying;
Yan, You-sheng;
Chen, Wen-qi;
Yang, Shu-fa;
Sun, Li-juan;
Sun, Yong-qing;
Wu, Qing-qing;
Yin, Cheng-hong

Publication type:

Article

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

Published in:

Genes, 2022, v. 13, n. 8, p. 1314, doi. 10.3390/genes13081314

By:

Taha, Ibrahim;
De Paoli, Federica;
Foroni, Selena;
Zucca, Susanna;
Limongelli, Ivan;
Cipolli, Marco;
Danesino, Cesare;
Ramenghi, Ugo;
Minelli, Antonella

Publication type:

Article

A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia.

Published in:

Genes, 2022, v. 13, n. 7, p. 1128, doi. 10.3390/genes13071128

By:

Zhang, Yanli;
Duan, Xiaohong

Publication type:

Article

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Published in:

Genes, 2022, v. 13, n. 1, p. 137, doi. 10.3390/genes13010137

By:

Markova, Tatyana;
Kenis, Vladimir;
Melchenko, Evgeniy;
Osipova, Darya;
Nagornova, Tatyana;
Orlova, Anna;
Zakharova, Ekaterina;
Dadali, Elena;
Kutsev, Sergey

Publication type:

Article

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Published in:

2021

By:

Flex, Elisabetta;
Imperatore, Valentina;
Carpentieri, Giovanna;
Bruselles, Alessandro;
Ciolfi, Andrea;
Pizzi, Simone;
Tedesco, Maria Giovanna;
Rogaia, Daniela;
Mencarelli, Amedea;
Di Cara, Giuseppe;
Verrotti, Alberto;
Troiani, Stefania;
Merla, Giuseppe;
Tartaglia, Marco;
Prontera, Paolo

Publication type:

Case Study

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Published in:

Genes, 2021, v. 12, n. 9, p. 1395, doi. 10.3390/genes12091395

By:

Bruni, Valentina;
Spoleti, Cristina Barbara;
La Barbera, Andrea;
Dattilo, Vincenzo;
Colao, Emma;
Votino, Carmela;
Bellacchio, Emanuele;
Perrotti, Nicola;
Giglio, Sabrina;
Iuliano, Rodolfo

Publication type:

Article

SLC26A2 -Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature.

Published in:

Genes, 2021, v. 12, n. 5, p. 714, doi. 10.3390/genes12050714

By:

Härkönen, Helmi;
Loid, Petra;
Mäkitie, Outi;
Comas, Susanna Balcells

Publication type:

Article

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Published in:

Genes, 2019, v. 10, n. 10, p. 799, doi. 10.3390/genes10100799

By:

Caraffi, Stefano Giuseppe;
Maini, Ilenia;
Ivanovski, Ivan;
Pollazzon, Marzia;
Giangiobbe, Sara;
Valli, Maurizia;
Rossi, Antonio;
Sassi, Silvia;
Faccioli, Silvia;
Di Rocco, Maja;
Magnani, Cinzia;
Campos-Xavier, Belinda;
Unger, Sheila;
Superti-Furga, Andrea;
Garavelli, Livia

Publication type:

Article

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Published in:

Genes, 2019, v. 10, n. 9, p. 631, doi. 10.3390/genes10090631

By:

Ritelli, Marco;
Cinquina, Valeria;
Giacopuzzi, Edoardo;
Venturini, Marina;
Chiarelli, Nicola;
Colombi, Marina

Publication type:

Article

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.

Published in:

Acta Dermato-Venereologica, 2019, v. 99, n. 12, p. 1110, doi. 10.2340/00015555-3318

By:

Satoru SHINKUMA;
Hideki NAKAMURA;
Manami MAEHARA;
Shota TAKASHIMA;
Toshifumi NOMURA;
Yasuyuki FUJITA;
Satoshi HASEGAWA;
SATO-MATSUMURA, Kazuko C.;
ABE, Riichiro;
Hiroshi SHIMIZU

Publication type:

Article

Advances in evaluating the fetal skeleton.

Published in:

International Journal of Women's Health, 2014, v. 6, p. 489, doi. 10.2147/IJWH.S47073

By:

Noel, Ann-Edwidge;
Brown, Richard N.

Publication type:

Article

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.

Published in:

Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00865-x

By:

Inoue, Takanobu;
Nakamura, Akie;
Iwahashi-Odano, Megumi;
Tanase-Nakao, Kanako;
Matsubara, Keiko;
Nishioka, Junko;
Maruo, Yoshihiro;
Hasegawa, Yukihiro;
Suzumura, Hiroshi;
Sato, Seiji;
Kobayashi, Yoshiyuki;
Murakami, Nobuyuki;
Nakabayashi, Kazuhiko;
Yamazawa, Kazuki;
Fuke, Tomoko;
Narumi, Satoshi;
Oka, Akira;
Ogata, Tsutomu;
Fukami, Maki;
Kagami, Masayo

Publication type:

Article

Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

Published in:

2017

By:

Berceanu, Costin;
Gheonea, Ioana Andreea;
Vlădăreanu, Simona;
Cîrstoiu, Monica Mihaela;
Vlădăreanu, Radu;
Mehedinţu, Claudia;
Berceanu, Sabina;
Ciortea, Răzvan;
Brătilă, Elvira

Publication type:

journal article