133 related articles for article (PubMed ID: 38346409)
1. Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L; Gulec C; Sarac Sivrikoz T; Kayserili H; Kalelioglu IH; Avci S; Has R; Coucke P; Kalayci T; Wollnik B; Karaman B; Toksoy G; Symoens S; Yigit G; Yuksel A; Basaran S; Tuysuz B; Altunoglu U; Uyguner ZO
Fetal Diagn Ther; 2024; 51(3):285-299. PubMed ID: 38346409
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive
Zhytnik L; Duy BH; Eekhoff M; Wisse L; Pals G; Reimann E; Kõks S; Märtson A; Maugeri A; Maasalu K; Micha D
Genes (Basel); 2022 Feb; 13(3):. PubMed ID: 35327962
[TBL] [Abstract][Full Text] [Related]
3. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
Tüysüz B; Elkanova L; Uludağ Alkaya D; Güleç Ç; Toksoy G; Güneş N; Yazan H; Bayhan AI; Yıldırım T; Yeşil G; Uyguner ZO
Bone; 2022 Feb; 155():116293. PubMed ID: 34902613
[TBL] [Abstract][Full Text] [Related]
4. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
Zhang ZL; Zhang H; Ke YH; Yue H; Xiao WJ; Yu JB; Gu JM; Hu WW; Wang C; He JW; Fu WZ
J Bone Miner Metab; 2012 Jan; 30(1):69-77. PubMed ID: 21667357
[TBL] [Abstract][Full Text] [Related]
5. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
Fernandes AM; Rocha-Braz MGM; França MM; Lerario AM; Simões VRF; Zanardo EA; Kulikowski LD; Martin RM; Mendonca BB; Ferraz-de-Souza B
Osteoporos Int; 2020 Jul; 31(7):1341-1352. PubMed ID: 32123938
[TBL] [Abstract][Full Text] [Related]
6. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B
J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
[TBL] [Abstract][Full Text] [Related]
7. A new case of osteogenesis imperfecta type VIII and retinal detachment.
de Souza LT; Nunes RR; de Azevedo Magalhães O; Maria Félix T
Am J Med Genet A; 2021 Jan; 185(1):238-241. PubMed ID: 33098264
[TBL] [Abstract][Full Text] [Related]
8. Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases.
Wu Q; Wang W; Cao L; Sun L; Xu Y; Zhong X
Fetal Pediatr Pathol; 2015 Feb; 34(1):57-64. PubMed ID: 25289482
[TBL] [Abstract][Full Text] [Related]
9. Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).
Nadyrshina D; Zaripova A; Tyurin A; Minniakhmetov I; Zakharova E; Khusainova R
Genes (Basel); 2022 Jan; 13(1):. PubMed ID: 35052464
[TBL] [Abstract][Full Text] [Related]
10. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D; Schwarze U; Morello R; Lennington J; Bertin TK; Pace JM; Pepin MG; Weis M; Eyre DR; Walsh J; Lambert D; Green A; Robinson H; Michelson M; Houge G; Lindman C; Martin J; Ward J; Lemyre E; Mitchell JJ; Krakow D; Rimoin DL; Cohn DH; Byers PH; Lee B
Hum Mutat; 2008 Dec; 29(12):1435-42. PubMed ID: 18566967
[TBL] [Abstract][Full Text] [Related]
11. Prenatal Cases Reflect the Complexity of the
Yang K; Liu Y; Wu J; Zhang J; Hu HY; Yan YS; Chen WQ; Yang SF; Sun LJ; Sun YQ; Wu QQ; Yin CH
Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140746
[TBL] [Abstract][Full Text] [Related]
12. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA; Valencia M; Pulido V; Martínez-Glez V; Rueda-Arenas I; Amr K; Farra C; Lapunzina P; Ruiz-Perez VL; Temtamy S; Aglan M
Am J Med Genet A; 2013 Jun; 161A(6):1354-69. PubMed ID: 23613367
[TBL] [Abstract][Full Text] [Related]
13. Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J; Bhavani GS; Shah H; Hecht J; Krüger U; Shukla A; Kornak U; Girisha KM
Bone; 2018 May; 110():368-377. PubMed ID: 29499418
[TBL] [Abstract][Full Text] [Related]
14. [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
Hasegawa K
Clin Calcium; 2010 Aug; 20(8):1190-5. PubMed ID: 20675929
[TBL] [Abstract][Full Text] [Related]
15. Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.
Bala MM; Bala KA
Adv Clin Exp Med; 2021 Dec; 30(12):1233-1238. PubMed ID: 34637196
[TBL] [Abstract][Full Text] [Related]
16. Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP; Souza LT; Ribeiro EM; Acosta AX; Lago RMRS; Simoni G; Llerena JC; Félix TM
Bone; 2023 Apr; 169():116683. PubMed ID: 36709916
[TBL] [Abstract][Full Text] [Related]
17. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O; Symoens S; Fannana M; Darwish M; Farraj M; Willaert A; Essawi T; Callewaert B; De Paepe A; Malfait F; Coucke PJ
Mol Genet Genomic Med; 2018 Jan; 6(1):15-26. PubMed ID: 29150909
[TBL] [Abstract][Full Text] [Related]
18. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC; Cabral WA; Barnes AM
Cell Tissue Res; 2010 Jan; 339(1):59-70. PubMed ID: 19862557
[TBL] [Abstract][Full Text] [Related]
19. Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father.
Chen CP; Su YN; Chang TY; Chern SR; Chen CY; Su JW; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):276-9. PubMed ID: 22795108
[TBL] [Abstract][Full Text] [Related]
20. The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
Yap JYC; Lim JY; Bhatia A; Tan VKJ; Koo S; Nishimura G; Moosa S; Koh AL; Tan EC; Fong N; Jamuar SS
Am J Med Genet A; 2024 Feb; 194(2):358-362. PubMed ID: 37799085
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
