145 related articles for article (PubMed ID: 21948671)
1. Raine syndrome.
Gaigi SS; Zeghal D; Masmoudi A; Cherif A; Jabnoun S; Khrouf N
Tunis Med; 2011; 89(8-9):723-5. PubMed ID: 21948671
[No Abstract] [Full Text] [Related]
2. Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.
Ferreira LD; Leal GF; de Oliveira JRM
J Mol Neurosci; 2021 Dec; 71(12):2482-2486. PubMed ID: 34259997
[TBL] [Abstract][Full Text] [Related]
3. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
Hytönen MK; Arumilli M; Lappalainen AK; Owczarek-Lipska M; Jagannathan V; Hundi S; Salmela E; Venta P; Sarkiala E; Jokinen T; Gorgas D; Kere J; Nieminen P; Drögemüller C; Lohi H
PLoS Genet; 2016 May; 12(5):e1006037. PubMed ID: 27187611
[TBL] [Abstract][Full Text] [Related]
4. FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.
Palma-Lara I; Pérez-Ramírez M; García Alonso-Themann P; Espinosa-García AM; Godinez-Aguilar R; Bonilla-Delgado J; López-Ornelas A; Victoria-Acosta G; Olguín-García MG; Moreno J; Palacios-Reyes C
Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34360805
[No Abstract] [Full Text] [Related]
5. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.
Ababneh FK; AlSwaid A; Youssef T; Al Azzawi M; Crosby A; AlBalwi MA
Am J Med Genet A; 2013 Dec; 161A(12):3155-60. PubMed ID: 24039075
[TBL] [Abstract][Full Text] [Related]
6. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.
Fradin M; Stoetzel C; Muller J; Koob M; Christmann D; Debry C; Kohler M; Isnard M; Astruc D; Desprez P; Zorres C; Flori E; Dollfus H; Doray B
Clin Genet; 2011 Aug; 80(2):177-83. PubMed ID: 20825432
[TBL] [Abstract][Full Text] [Related]
7. A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
Hung CY; Rodriguez M; Roberts A; Bauer M; Mihalek I; Bodamer O
Am J Med Genet A; 2019 Sep; 179(9):1866-1871. PubMed ID: 31297960
[TBL] [Abstract][Full Text] [Related]
8. Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.
Kinoshita Y; Hori M; Taguchi M; Fukumoto S
Bone; 2014 Oct; 67():145-51. PubMed ID: 25026495
[TBL] [Abstract][Full Text] [Related]
9. Non lethal Raine syndrome and differential diagnosis.
Elalaoui SC; Al-Sheqaih N; Ratbi I; Urquhart JE; O'Sullivan J; Bhaskar S; Williams SS; Elalloussi M; Lyahyai J; Sbihi L; Cherkaoui Jaouad I; Sbihi A; Newman WG; Sefiani A
Eur J Med Genet; 2016 Nov; 59(11):577-583. PubMed ID: 27667191
[TBL] [Abstract][Full Text] [Related]
10. Two Novel
Hernández-Zavala A; Cortés-Camacho F; Palma Lara I; Godinez-Aguilar R; Espinosa-García AM; Pérez-Durán J; Villanueva-Ocampo P; Ugarte-Briones C; Serrano-Bello CA; Sanchez-Santiago P; Bonilla-Delgado J; Yañez-López MA; Victoria-Acosta G; López-Ornelas A; García Alonso-Themann P; Moreno J; Palacios-Reyes C
Genes (Basel); 2020 Feb; 11(2):. PubMed ID: 32093234
[TBL] [Abstract][Full Text] [Related]
11. A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee.
Rolvien T; Kornak U; Schinke T; Amling M; Oheim R
Osteoporos Int; 2019 Mar; 30(3):685-689. PubMed ID: 30151622
[TBL] [Abstract][Full Text] [Related]
12. Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
Acevedo AC; Poulter JA; Alves PG; de Lima CL; Castro LC; Yamaguti PM; Paula LM; Parry DA; Logan CV; Smith CE; Johnson CA; Inglehearn CF; Mighell AJ
BMC Med Genet; 2015 Feb; 16():8. PubMed ID: 25928877
[TBL] [Abstract][Full Text] [Related]
13. Report of a case of Raine syndrome and literature review.
Seidahmed MZ; Alazami AM; Abdelbasit OB; Al Hussein K; Miqdad AM; Abu-Sa'da O; Mustafa T; Bahjat S; Alkuraya FS
Am J Med Genet A; 2015 Oct; 167A(10):2394-8. PubMed ID: 25974638
[TBL] [Abstract][Full Text] [Related]
14. Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.
Mamedova E; Dimitrova D; Przhiyalkovskaya E; Buryakina S; Vasilyev E; Tiulpakov A; Belaya Z
Calcif Tissue Int; 2019 Nov; 105(5):567-572. PubMed ID: 31471673
[TBL] [Abstract][Full Text] [Related]
15. A case of Raine syndrome presenting with facial dysmorphy and review of literature.
Sheth J; Bhavsar R; Gandhi A; Sheth F; Pancholi D
BMC Med Genet; 2018 May; 19(1):76. PubMed ID: 29751744
[TBL] [Abstract][Full Text] [Related]
16. Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia.
Liu P; Ma S; Zhang H; Liu C; Lu Y; Chen L; Qin C
Sci Rep; 2017 Jun; 7(1):3590. PubMed ID: 28620244
[TBL] [Abstract][Full Text] [Related]
17. The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.
Ishikawa HO; Xu A; Ogura E; Manning G; Irvine KD
PLoS One; 2012; 7(8):e42988. PubMed ID: 22900076
[TBL] [Abstract][Full Text] [Related]
18. Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.
Shalev SA; Shalev E; Reich D; Borochowitz ZU
Am J Med Genet; 1999 Sep; 86(3):274-7. PubMed ID: 10482879
[TBL] [Abstract][Full Text] [Related]
19. Genetics of the Meckel syndrome (dysencephalia splanchnocystica).
Hsia YE; Bratu M; Herbordt A
Pediatrics; 1971 Aug; 48(2):237-47. PubMed ID: 4997860
[No Abstract] [Full Text] [Related]
20. The secretory pathway kinases.
Sreelatha A; Kinch LN; Tagliabracci VS
Biochim Biophys Acta; 2015 Oct; 1854(10 Pt B):1687-93. PubMed ID: 25862977
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]