158 related articles for article (PubMed ID: 25604815)
1. CRTAP mutation in a patient with Cole-Carpenter syndrome.
Balasubramanian M; Pollitt RC; Chandler KE; Mughal MZ; Parker MJ; Dalton A; Arundel P; Offiah AC; Bishop NJ
Am J Med Genet A; 2015 Mar; 167A(3):587-91. PubMed ID: 25604815
[TBL] [Abstract][Full Text] [Related]
2. Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.
Takeyari S; Kubota T; Miyata K; Yamamoto K; Nakayama H; Yamamoto K; Ohata Y; Kitaoka T; Yanagi K; Kaname T; Ozono K
Am J Med Genet A; 2018 Dec; 176(12):2882-2886. PubMed ID: 30462379
[TBL] [Abstract][Full Text] [Related]
3. Cole-Carpenter syndrome in a patient from Thailand.
Porntaveetus T; Theerapanon T; Srichomthong C; Shotelersuk V
Am J Med Genet A; 2018 Aug; 176(8):1706-1710. PubMed ID: 30063094
[TBL] [Abstract][Full Text] [Related]
4. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
Rauch F; Fahiminiya S; Majewski J; Carrot-Zhang J; Boudko S; Glorieux F; Mort JS; Bächinger HP; Moffatt P
Am J Hum Genet; 2015 Mar; 96(3):425-31. PubMed ID: 25683117
[TBL] [Abstract][Full Text] [Related]
5. Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report.
Ouyang L; Yang F
Medicine (Baltimore); 2017 Dec; 96(52):e9504. PubMed ID: 29384951
[TBL] [Abstract][Full Text] [Related]
6.
Balasubramanian M; Padidela R; Pollitt RC; Bishop NJ; Mughal MZ; Offiah AC; Wagner BE; McCaughey J; Stephens DJ
J Med Genet; 2018 Mar; 55(3):158-165. PubMed ID: 29263160
[TBL] [Abstract][Full Text] [Related]
7. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Garbes L; Kim K; Rieß A; Hoyer-Kuhn H; Beleggia F; Bevot A; Kim MJ; Huh YH; Kweon HS; Savarirayan R; Amor D; Kakadia PM; Lindig T; Kagan KO; Becker J; Boyadjiev SA; Wollnik B; Semler O; Bohlander SK; Kim J; Netzer C
Am J Hum Genet; 2015 Mar; 96(3):432-9. PubMed ID: 25683121
[TBL] [Abstract][Full Text] [Related]
8. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Cotrina-Vinagre FJ; Rodríguez-García ME; Martín-Hernández E; Durán-Aparicio C; Merino-López A; Medina-Benítez E; Martínez-Azorín F
Mol Genet Metab; 2021 Jun; 133(2):201-210. PubMed ID: 33707149
[TBL] [Abstract][Full Text] [Related]
9. New case of Cole-Carpenter syndrome.
Amor DJ; Savarirayan R; Schneider AS; Bankier A
Am J Med Genet; 2000 Jun; 92(4):273-7. PubMed ID: 10842295
[TBL] [Abstract][Full Text] [Related]
10. Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.
Amor IM; Rauch F; Gruenwald K; Weis M; Eyre DR; Roughley P; Glorieux FH; Morello R
Am J Med Genet A; 2011 Nov; 155A(11):2865-70. PubMed ID: 21964860
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype study in type V osteogenesis imperfecta.
Balasubramanian M; Parker MJ; Dalton A; Giunta C; Lindert U; Peres LC; Wagner BE; Arundel P; Offiah A; Bishop NJ
Clin Dysmorphol; 2013 Jul; 22(3):93-101. PubMed ID: 23612438
[TBL] [Abstract][Full Text] [Related]
12. Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
Barbirato C; Trancozo M; Almeida MG; Almeida LS; Santos TO; Duarte JC; Rebouças MR; Sipolatti V; Nunes VR; Paula F
Genet Mol Res; 2015 Dec; 14(4):15848-58. PubMed ID: 26634552
[TBL] [Abstract][Full Text] [Related]
13. Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.
Marulanda J; Ludwig K; Glorieux F; Lee B; Sutton VR; ; Retrouvey JM; Rauch F
Bone; 2022 Nov; 164():116516. PubMed ID: 35970273
[TBL] [Abstract][Full Text] [Related]
14. Dental and craniofacial defects in the Crtap
Xu H; Lenhart SA; Chu EY; Chavez MB; Wimer HF; Dimori M; Somerman MJ; Morello R; Foster BL; Hatch NE
Dev Dyn; 2020 Jul; 249(7):884-897. PubMed ID: 32133710
[TBL] [Abstract][Full Text] [Related]
15. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
Barnes AM; Chang W; Morello R; Cabral WA; Weis M; Eyre DR; Leikin S; Makareeva E; Kuznetsova N; Uveges TE; Ashok A; Flor AW; Mulvihill JJ; Wilson PL; Sundaram UT; Lee B; Marini JC
N Engl J Med; 2006 Dec; 355(26):2757-64. PubMed ID: 17192541
[TBL] [Abstract][Full Text] [Related]
16. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.
Cole DE; Carpenter TO
J Pediatr; 1987 Jan; 110(1):76-80. PubMed ID: 3794889
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [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]
19. Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.
Fiscaletti M; Biggin A; Bennetts B; Wong K; Briody J; Pacey V; Birman C; Munns CF
Bone; 2018 May; 110():66-75. PubMed ID: 29382611
[TBL] [Abstract][Full Text] [Related]
20. Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.
Costantini A; Tournis S; Kämpe A; Ul Ain N; Taylan F; Doulgeraki A; Mäkitie O
Calcif Tissue Int; 2018 Sep; 103(3):353-358. PubMed ID: 29572562
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
