274 related articles for article (PubMed ID: 32470407)
1. A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.
Yasin S; Mustafa S; Ayesha A; Latif M; Hassan M; Faisal M; Makitie O; Iqbal F; Naz S
Eur J Med Genet; 2020 Aug; 63(8):103958. PubMed ID: 32470407
[TBL] [Abstract][Full Text] [Related]
2. A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
Ho TT; Tran LH; Hoang LT; Doan PKT; Nguyen TT; Nguyen TH; Tran HT; Hoang H; Chu HH; Luong ALT
BMC Musculoskelet Disord; 2020 Apr; 21(1):216. PubMed ID: 32264862
[TBL] [Abstract][Full Text] [Related]
3. Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
Das L; Dhiman V; Van Hul W; Bhansali A; Gogate Y; Steenackers E; Mortier G; Bhadada SK
Bone Rep; 2020 Jun; 12():100245. PubMed ID: 32025536
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic
Ain NU; Makitie O; Naz S
J Med Genet; 2018 Jun; 55(6):403-407. PubMed ID: 28830906
[TBL] [Abstract][Full Text] [Related]
5. A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
Isidor B; Geffroy L; de Courtivron B; Le Caignec C; Thiel CT; Mortier G; Cormier-Daire V; David A; Toutain A
Am J Med Genet A; 2013 Oct; 161A(10):2645-51. PubMed ID: 23956136
[TBL] [Abstract][Full Text] [Related]
6. A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
Ullah A; Umair M; Muhammad D; Bilal M; Lee K; Leal SM; Ahmad W
Ann Hum Genet; 2018 May; 82(3):129-134. PubMed ID: 29322508
[TBL] [Abstract][Full Text] [Related]
7. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Faden M; AlZahrani F; Mendoza-Londono R; Dupuis L; Hartley T; Kannu P; Raiman JA; Howard A; Qin W; Tetreault M; Xi JQ; Al-Thamer I; ; Maas RL; Boycott K; Alkuraya FS
Am J Hum Genet; 2015 Oct; 97(4):608-15. PubMed ID: 26365341
[TBL] [Abstract][Full Text] [Related]
8. A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
Mustafa S; Akhtar Z; Latif M; Hassan M; Faisal M; Iqbal F
Genes Genomics; 2020 Aug; 42(8):847-854. PubMed ID: 32506268
[TBL] [Abstract][Full Text] [Related]
9. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Girisha KM; von Elsner L; Neethukrishna K; Muranjan M; Shukla A; Bhavani GS; Nishimura G; Kutsche K; Mortier G
Hum Mutat; 2019 Mar; 40(3):299-309. PubMed ID: 30488656
[TBL] [Abstract][Full Text] [Related]
10. Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
Al-Sannaa NA; Hoornaert KP; Van Laer L; Al-Abdulwahed HY; Mortier G
Eur J Med Genet; 2020 Dec; 63(12):104059. PubMed ID: 32896647
[TBL] [Abstract][Full Text] [Related]
11. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
Borochowitz ZU; Scheffer D; Adir V; Dagoneau N; Munnich A; Cormier-Daire V
J Med Genet; 2004 May; 41(5):366-72. PubMed ID: 15121775
[No Abstract] [Full Text] [Related]
12. Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Pettersson M; Vaz R; Hammarsjö A; Eisfeldt J; Carvalho CMB; Hofmeister W; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
Hum Mutat; 2018 Oct; 39(10):1456-1467. PubMed ID: 30080953
[TBL] [Abstract][Full Text] [Related]
13. A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.
Elhossini RM; Ahmed HA; Otaify G; Ghorab RM; Amr K; Aglan M
Am J Med Genet A; 2022 Oct; 188(10):2861-2868. PubMed ID: 36097642
[TBL] [Abstract][Full Text] [Related]
14. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
Hellemans J; Simon M; Dheedene A; Alanay Y; Mihci E; Rifai L; Sefiani A; van Bever Y; Meradji M; Superti-Furga A; Mortier G
Am J Hum Genet; 2009 Dec; 85(6):916-22. PubMed ID: 20004766
[TBL] [Abstract][Full Text] [Related]
15. Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.
Fedida A; Ben Harouch S; Kalfon L; Abunassar Z; Omari H; Mandel H; Falik-Zaccai TC
Eur J Med Genet; 2020 Nov; 63(11):104020. PubMed ID: 32827718
[TBL] [Abstract][Full Text] [Related]
16. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Jelani M; Kang C; Mohamoud HS; Al-Rehaili R; Almramhi MM; Serafi R; Yang H; Al-Aama JY; Naeem M; Alkhiary YM
Arch Oral Biol; 2016 Jul; 67():28-33. PubMed ID: 27019138
[TBL] [Abstract][Full Text] [Related]
17. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Mansouri M; Kayserili H; Elalaoui SC; Nishimura G; Iida A; Lyahyai J; Miyake N; Matsumoto N; Sefiani A; Ikegawa S
Am J Med Genet A; 2016 Feb; 170A(2):460-465. PubMed ID: 26463668
[TBL] [Abstract][Full Text] [Related]
18. Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.
Sharony R; Borochowitz Z; Cohen L; Shtorch-Asor A; Rosenfeld R; Modai S; Reinstein E
Clin Genet; 2017 Dec; 92(6):645-648. PubMed ID: 28342220
[TBL] [Abstract][Full Text] [Related]
19. RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Ain NU; Fatima Z; Naz S; Makitie O
BMC Musculoskelet Disord; 2021 Jul; 22(1):630. PubMed ID: 34284742
[TBL] [Abstract][Full Text] [Related]
20. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
Mabuchi A; Haga N; Maeda K; Nakashima E; Manabe N; Hiraoka H; Kitoh H; Kosaki R; Nishimura G; Ohashi H; Ikegawa S
Hum Mutat; 2004 Nov; 24(5):439-40. PubMed ID: 15459972
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
