149 related articles for article (PubMed ID: 27353973)
1. Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.
Beena S; Murlidhar L; Seshadri S; Jagadeesh S; Suresh I
J Matern Fetal Neonatal Med; 2017 May; 30(9):1041-1044. PubMed ID: 27353973
[TBL] [Abstract][Full Text] [Related]
2. Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review.
Galera MF; de Silva Patrício FR; Lederman HM; Porciúncula CG; Lopes Monlleo I; Brunoni D
Pediatr Radiol; 1999 Nov; 29(11):842-5. PubMed ID: 10552065
[TBL] [Abstract][Full Text] [Related]
3. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
Duchatelet S; Ostergaard E; Cortes D; Lemainque A; Julier C
Hum Mol Genet; 2005 Jan; 14(1):1-5. PubMed ID: 15525660
[TBL] [Abstract][Full Text] [Related]
4. First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.
den Hollander NS; van der Harten HJ; Vermeij-Keers C; Niermeijer MF; Wladimiroff JW
Am J Med Genet; 1997 Dec; 73(3):345-50. PubMed ID: 9415697
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.
Hoogendam J; Farih-Sips H; Wÿnaendts LC; Löwik CW; Wit JM; Karperien M
J Clin Endocrinol Metab; 2007 Mar; 92(3):1088-95. PubMed ID: 17164305
[TBL] [Abstract][Full Text] [Related]
6. Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.
Oostra RJ; van der Harten JJ; Rijnders WP; Scott RJ; Young MP; Trump D
Virchows Arch; 2000 Jan; 436(1):28-35. PubMed ID: 10664159
[TBL] [Abstract][Full Text] [Related]
7. A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.
Karperien M; van der Harten HJ; van Schooten R; Farih-Sips H; den Hollander NS; Kneppers SL; Nijweide P; Papapoulos SE; Löwik CW
J Clin Endocrinol Metab; 1999 Oct; 84(10):3713-20. PubMed ID: 10523019
[TBL] [Abstract][Full Text] [Related]
8. A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
Young ID; Zuccollo JM; Broderick NJ
J Med Genet; 1993 Feb; 30(2):155-7. PubMed ID: 8445622
[TBL] [Abstract][Full Text] [Related]
9. Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Sarac Sivrikoz T; Kalayci T; Senturk L; Karaman V; Kalelioglu IH; Has R; Kayserili H; Uyguner ZO; Nishimura G; Altunoglu U
Prenat Diagn; 2022 Nov; 42(12):1503-1510. PubMed ID: 35808914
[TBL] [Abstract][Full Text] [Related]
10. Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
Loshkajian A; Roume J; Stanescu V; Delezoide AL; Stampf F; Maroteaux P
Am J Med Genet; 1997 Aug; 71(3):283-8. PubMed ID: 9268097
[TBL] [Abstract][Full Text] [Related]
11. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
Jobert AS; Zhang P; Couvineau A; Bonaventure J; Roume J; Le Merrer M; Silve C
J Clin Invest; 1998 Jul; 102(1):34-40. PubMed ID: 9649554
[TBL] [Abstract][Full Text] [Related]
12. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
Zhang P; Jobert AS; Couvineau A; Silve C
J Clin Endocrinol Metab; 1998 Sep; 83(9):3365-8. PubMed ID: 9745456
[TBL] [Abstract][Full Text] [Related]
13. Blomstrand lethal osteochondrodysplasia.
Leroy JG; Keersmaeckers G; Coppens M; Dumon JE; Roels H
Am J Med Genet; 1996 May; 63(1):84-9. PubMed ID: 8723092
[TBL] [Abstract][Full Text] [Related]
14. [Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia].
Ogata N
Clin Calcium; 2010 Oct; 20(10):1481-8. PubMed ID: 20890029
[TBL] [Abstract][Full Text] [Related]
15. Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
Wang J; Zhao C; Zhang X; Yang L; Hu Y
Mol Genet Genomic Med; 2024 Jan; 12(1):e2301. PubMed ID: 37840415
[TBL] [Abstract][Full Text] [Related]
16. Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.
Risom L; Christoffersen L; Daugaard-Jensen J; Hove HD; Andersen HS; Andresen BS; Kreiborg S; Duno M
PLoS One; 2013; 8(9):e74601. PubMed ID: 24058597
[TBL] [Abstract][Full Text] [Related]
17. Fibrochondrogenesis in male twins at 24 weeks gestation.
Bankier A; Fortune D; Duke J; Sillence DO
Am J Med Genet; 1991 Jan; 38(1):95-8. PubMed ID: 2012139
[TBL] [Abstract][Full Text] [Related]
18. Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report.
Mason AE; Grier D; Smithson SF; Burren CP; Gradhand E
BMC Med Genet; 2020 Mar; 21(1):64. PubMed ID: 32228492
[TBL] [Abstract][Full Text] [Related]
19. [Two cases of osteochondrodysplasia: multiple enchondromatosis and multiple cartilagenous exostoses].
Ronconi GF; Meli S; Pesenti P; Toniolo S; Zanardo V
Pediatr Med Chir; 1982; 4(3):317-20. PubMed ID: 6984900
[No Abstract] [Full Text] [Related]
20. A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.
Bastepe M; Raas-Rothschild A; Silver J; Weissman I; Wientroub S; Jüppner H; Gillis D
J Clin Endocrinol Metab; 2004 Jul; 89(7):3595-600. PubMed ID: 15240651
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]