Works matching DE "SKELETAL dysplasia"

Results: 549

RUNX2 is essential for maintaining synchondrosis chondrocytes and cranial base growth.

Published in:

Bone Research, 2025, v. 13, n. 1, p. 1, doi. 10.1038/s41413-025-00426-z

By:

Hallett, Shawn A.;
Dixon, Ashley;
Marrale, Isabella;
Batoon, Lena;
Brenes, José;
Zhou, Annabelle;
Arbiv, Ariel;
Kaartinen, Vesa;
Allen, Benjamin;
Ono, Wanida;
Franceschi, Renny T.;
Ono, Noriaki

Publication type:

Article

Dyggve–Melchior–Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Published in:

Genes, 2025, v. 16, n. 5, p. 490, doi. 10.3390/genes16050490

By:

Reyes-Silva, Carlos;
Gallardo-Vizuete, Joseline;
Guzmán-Acán, Judith;
Jaramillo-Koupermann, Gabriela;
Cabrera-Andrade, Alejandro

Publication type:

Article

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4940, doi. 10.3390/ijms26104940

By:

Ago, Yasuhiko;
Khan, Shaukat;
Klipner, Kimberly;
Bradford, Allison;
Tomatsu, Shunji

Publication type:

Article

PHENOTYPIC HETEROGENEITY IN TERMINAL OSSEOUS DYSPLASIA: ELUCIDATING THE ROLE OF TWO FLNA VARIANTS.

Published in:

Genetics & Applications, 2023, p. 56

By:

Belma, Mutapčić;
Lejla, Delalić;
Emina, Džidić;
Merima, Kljajić

Publication type:

Article

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.

Published in:

Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01581

By:

Vakkilainen, Svetlana;
Taskinen, Mervi;
Klemetti, Paula;
Pukkala, Eero;
Mäkitie, Outi

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

Neonatal Familiar Cleidocranial Dysplasia: A Case Report.

Published in:

2025

By:

Shimeng Zhao;
Tongtong Wang;
Haipeng Yang;
Riyan Huang

Publication type:

Case Study

Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report.

Published in:

Orthopaedic Surgery, 2020, v. 12, n. 1, p. 333, doi. 10.1111/os.12546

By:

Tchio Tchoumba, Michele A;
Bai, Yan;
Jin, Runming;
Yu, Xianying;
Male, Musa

Publication type:

Article

Re-alignment-procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes.

Published in:

Orthopaedic Surgery, 2013, v. 5, n. 1, p. 33, doi. 10.1111/os.12023

By:

Al Kaissi, Ali;
Ganger, Rudolf;
Roetzer, Katharina M.;
Schwarzbraun, Thomas;
Klaushofer, Klaus;
Grill, Franz

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

PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism.

Published in:

Genes, 2022, v. 13, n. 12, p. 2354, doi. 10.3390/genes13122354

By:

Ludwig-Peisker, Odette;
Ansel, Emily;
Schweizer, Daniela;
Jagannathan, Vidhya;
Loechel, Robert;
Leeb, Tosso

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

LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia.

Published in:

Genes, 2021, v. 12, n. 12, p. 1923, doi. 10.3390/genes12121923

By:

Rudd Garces, Gabriela;
Knebel, Anna;
Hülskötter, Kirsten;
Jagannathan, Vidhya;
Störk, Theresa;
Hewicker-Trautwein, Marion;
Leeb, Tosso;
Volk, Holger A.

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

Anesthetic dilemmas in an achondroplastic patient undergoing elective cesarean section.

Published in:

2024

By:

Brown, Aaron;
Hong Liu;
Chandler, Cristina

Publication type:

Case Study

Clinico-Radiological Perspectives of Pycnodysostosis - A Rare Case Series.

Published in:

2024

By:

Shanmugapriya, Sundar Raj;
Priya, Sairam Sugantha;
Priya, Mohankumar Saravana;
Selvam, Alagarsamy;
Anupriya, Mahalingam

Publication type:

Case Study

Optimal management of complications associated with achondroplasia.

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 117, doi. 10.2147/TACG.S51485

By:

Ireland, Penny J.;
Pacey, Verity;
Zankl, Andreas;
Edwards, Priya;
Johnston, Leanne M.;
Savarirayan, Ravi

Publication type:

Article

Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.

Published in:

2015

By:

Elhoury, Motea E.;
Faqeih, Eissa;
Almoukirish, Abdulrahman S.;
Galal, Mohammed O.

Publication type:

journal article

Carbohydrate sulfotransferases: a review of emerging diagnostic and prognostic applications.

Published in:

Biochemia Medica, 2023, v. 33, n. 3, p. 1, doi. 10.11613/BM.2023.030503

By:

Begolli, Gramos;
Marković, Ivana;
Knežević, Jelena;
Debeljak, Željko

Publication type:

Article

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Published in:

2019

By:

Colman, Marlies;
Van Damme, Tim;
Steichen-Gersdorf, Elisabeth;
Laccone, Franco;
Nampoothiri, Sheela;
Syx, Delfien;
Guillemyn, Brecht;
Symoens, Sofie;
Malfait, Fransiska

Publication type:

journal article

Achondroplasia: a comprehensive clinical review.

Published in:

2019

By:

Pauli, Richard M.

Publication type:

journal article

Induced pluripotent stem cells from homozygous Runx2-deficient mice show poor response to vitamin D during osteoblastic differentiation.

Published in:

Medical Molecular Morphology, 2022, v. 55, n. 3, p. 174, doi. 10.1007/s00795-022-00317-w

By:

Aoki, Hideto;
Suzuki, Eiichi;
Nakamura, Takashi;
Onodera, Shoko;
Saito, Akiko;
Ohtaka, Manami;
Nakanishi, Mahito;
Nishimura, Ken;
Saito, Atsushi;
Azuma, Toshifumi

Publication type:

Article

Fabrication of Hard Tissue Constructs from Induced Pluripotent Stem Cells for Exploring Mechanisms of Hereditary Tooth/Skeletal Dysplasia.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 2, p. 804, doi. 10.3390/ijms26020804

By:

Kondo, Takeru;
Thaweesapphithak, Sermporn;
Ambo, Sara;
Otake, Koki;
Ohori-Morita, Yumi;
Mori, Satomi;
Vinaikosol, Naruephorn;
Porntaveetus, Thantrira;
Egusa, Hiroshi

Publication type:

Article

Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.

Published in:

Fetal & Pediatric Pathology, 2015, v. 34, n. 5, p. 287, doi. 10.3109/15513815.2015.1068414

By:

Toru, Havva Serap;
Nur, Banu Guzel;
Sanhal, Cem Yasar;
Mihci, Ercan;
Mendilcioğlu, İnanç;
Yilmaz, Elanur;
Yilmaz, Gulden Tasova;
Ozbudak, Irem Hicran;
Karaali, Kamil;
Alper, Ozgul M.;
Karaveli, Fatma Şeyda

Publication type:

Article

Osteogenesis Imperfecta Due to Compound Heterozygosity for the LEPRE1 Gene.

Published in:

Fetal & Pediatric Pathology, 2013, v. 32, n. 5, p. 319, doi. 10.3109/15513815.2012.754528

By:

Moul, Adrienne;
Alladin, Amanda;
Navarrete, Cristina;
Abdenour, George;
Rodriguez, Maria M.

Publication type:

Article

Prenatal Ultrasound and MRI Diagnosis of Jeune Syndrome Type I (Asphyxiating Thoracic Dystrophy) with Histology and Post-Mortem Three-Dimensional CT Confirmation.

Published in:

Fetal & Pediatric Pathology, 2013, v. 32, n. 2, p. 123, doi. 10.3109/15513815.2012.681427

By:

Tonni, Gabriele;
Panteghini, Marco;
Bonasoni, MariaPaola;
Pattacini, Pierpaolo;
Ventura, Alessandro

Publication type:

Article

Co-Occurrence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Published in:

Cytogenetic & Genome Research, 2015, v. 145, n. 1, p. 25, doi. 10.1159/000381169

By:

Heinrich, Tilman;
Nanda, Indrajit;
Rehn, Monika;
Zollner, Ursula;
Ernestus, Karen;
Wirth, Clemens;
Schlüter, Gregor;
Schmid, Michael;
Kunstmann, Erdmute

Publication type:

Article

Extracorporal noninvasive acute retraction of STRYDE<sup>®</sup> for continued lengthening in cases with limited nail stroke: a technical less invasive solution to reload the STRYDE<sup>®</sup>.

Published in:

2021

By:

Schiedel, F.

Publication type:

journal article

Total knee arthroplasty in patients with skeletal dysplasia.

Published in:

Archives of Orthopaedic & Trauma Surgery, 2015, v. 135, n. 8, p. 1163, doi. 10.1007/s00402-015-2234-6

By:

Guenther, Daniel;
Kendoff, Daniel;
Omar, Mohamed;
Cui, Liang;
Schmidl, Stefan;
Jakobs, Oliver;
Gehrke, Thorsten;
Haasper, Carl

Publication type:

Article

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.

Published in:

Global Medical Genetics, 2022, v. 9, n. 1, p. 23, doi. 10.1055/s-0041-1736482

By:

Yigin, Aysel Kalayci;
Duz, Mehmet Bugrahan;
Seven, Mehmet

Publication type:

Article

İlk trimester kistik higroma tanısı konulan olguların retrospektif analizi; tek merkez tecrübeleri.

Published in:

Ege Journal of Medicine, 2025, v. 64, n. 1, p. 159, doi. 10.19161/etd.1468865

By:

Konukcu, Birsen

Publication type:

Article

Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.

Published in:

Modern Rheumatology, 2024, v. 34, n. 4, p. 705, doi. 10.1093/mr/road070

By:

Aniceto Moreira, Larissa;
Rocha Carvalho, Daniel;
Lima Santos, Savana Camilla;
Silva, Cynthia Costa E.;
Araujo Ferreira, Bruno Silva;
da Cunha, Bernardo Matos;
Costa Silveira, Karina;
Jazmin Lacarrubba-Flores, Maria Dora;
Pontes Cavalcanti, Denise;
Henrique da Mota, Licia Maria

Publication type:

Article

Detection rates of a national fetal anomaly screening programme: A national cohort study.

Published in:

BJOG: An International Journal of Obstetrics & Gynaecology, 2023, v. 130, n. 1, p. 51, doi. 10.1111/1471-0528.17287

By:

Aldridge, Nicholas;
Pandya, Pranav;
Rankin, Judith;
Miller, Nicola;
Broughan, Jennifer;
Permalloo, Nadia;
McHugh, Annette;
Stevens, Sarah

Publication type:

Article

敲低 NIPBL 基因调控小鼠骨髓间充质干细胞向软骨的分化.

Published in:

Chinese Journal of Tissue Engineering Research / Zhongguo Zuzhi Gongcheng Yanjiu, 2023, v. 23, n. 10, p. 1477, doi. 10.12307/2023.288

By:

马雯晴;
张惠荣;
刘辉;
董丽丽;
杨眷娣

Publication type:

Article

Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00302-y

By:

Nakajima, Erika;
Yokohama, Yuko;
Sugiyama, Saori;
Taketazu, Mio;
Mitsube, Kenrokuro;
Yamada, Takahiro;
Hammarsjö, Anna;
Grigelioniene, Giedre;
Nishimura, Gen;
Makita, Yoshio

Publication type:

Article

A novel FLNA variant in a fetus with skeletal dysplasia.

Published in:

Human Genome Variation, 2022, p. 1, doi. 10.1038/s41439-022-00224-7

By:

Oshina, Kyoko;
Kamei, Yoshimasa;
Hori, Asuka;
Hasegawa, Fuyuki;
Taniguchi, Kosuke;
Migita, Ohsuke;
Itakura, Atsuo;
Hata, Kenichiro

Publication type:

Article

Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00190-0

By:

Sato, Hiroki;
Suga, Kenichi;
Suzue, Masashi;
Honma, Yukako;
Hayabuchi, Yasunobu;
Miyai, Shunsuke;
Kurahashi, Hiroki;
Nakagawa, Ryuji

Publication type:

Article