133 related articles for article (PubMed ID: 33605604)
1. Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
Sabir AH; Singhal J; Man J; Mensah NE; Ahn JW; Cheung MS; Irving M
Clin Dysmorphol; 2021 Jul; 30(3):154-158. PubMed ID: 33605604
[TBL] [Abstract][Full Text] [Related]
2. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Machol K; Jain M; Almannai M; Orand T; Lu JT; Tran A; Chen Y; Schlesinger A; Gibbs R; Bonafe L; Campos-Xavier AB; Unger S; Superti-Furga A; Lee BH; Campeau PM; Burrage LC
Am J Med Genet A; 2017 Mar; 173(3):733-739. PubMed ID: 27888646
[TBL] [Abstract][Full Text] [Related]
3. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Lee CS; Fu H; Baratang N; Rousseau J; Kumra H; Sutton VR; Niceta M; Ciolfi A; Yamamoto G; Bertola D; Marcelis CL; Lugtenberg D; Bartuli A; Kim C; Hoover-Fong J; Sobreira N; Pauli R; Bacino C; Krakow D; Parboosingh J; Yap P; Kariminejad A; McDonald MT; Aracena MI; Lausch E; Unger S; Superti-Furga A; Lu JT; ; Cohn DH; Tartaglia M; Lee BH; Reinhardt DP; Campeau PM
Am J Hum Genet; 2017 Nov; 101(5):815-823. PubMed ID: 29100092
[TBL] [Abstract][Full Text] [Related]
4. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Costantini A; Valta H; Baratang NV; Yap P; Bertola DR; Yamamoto GL; Kim CA; Chen J; Wierenga KJ; Fanning EA; Escobar L; McWalter K; McLaughlin H; Willaert R; Begtrup A; Alm JJ; Reinhardt DP; Mäkitie O; Campeau PM
Bone; 2019 Apr; 121():163-171. PubMed ID: 30599297
[TBL] [Abstract][Full Text] [Related]
5. Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.
Cadoff EB; Sheffer R; Wientroub S; Ovadia D; Meiner V; Schwarzbauer JE
Clin Genet; 2018 Nov; 94(5):429-437. PubMed ID: 30051459
[TBL] [Abstract][Full Text] [Related]
6. Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.
Currarino G; Birch JG; Herring JA
Pediatr Radiol; 2000 Jan; 30(1):14-24. PubMed ID: 10663502
[TBL] [Abstract][Full Text] [Related]
7. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.
Ramos-Mejía R; Heath KE; Modamio-Høybjør S; Huckstadt V; Calcagni J; Remondino R; Fano V
Am J Med Genet A; 2024 Mar; 194(3):e63469. PubMed ID: 37940834
[TBL] [Abstract][Full Text] [Related]
8. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
Isidor B; Baron S; Khau van Kien P; Bertrand AM; David A; Le Merrer M
Am J Med Genet A; 2010 Jun; 152A(6):1550-4. PubMed ID: 20503334
[TBL] [Abstract][Full Text] [Related]
9. Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).
Kozlowski K; Robben S; Bellemore M; Sillence D; Zonderland H
Radiol Med; 1993; 85(1-2):7-11. PubMed ID: 8480052
[TBL] [Abstract][Full Text] [Related]
10. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.
Ikegawa S; Nishimura G; Nagai T; Hasegawa T; Ohashi H; Nakamura Y
Am J Hum Genet; 1998 Dec; 63(6):1659-62. PubMed ID: 9837818
[TBL] [Abstract][Full Text] [Related]
11. Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.
Savarirayan R; Cormier-Daire V; Lachman RS; Rimoin DL
Pediatr Radiol; 2000 Jul; 30(7):460-3. PubMed ID: 10929364
[TBL] [Abstract][Full Text] [Related]
12. A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.
Sutton VR; Hyland JC; Phillips WA; Schlesinger AE; Brill PW
Am J Med Genet A; 2005 Mar; 133A(2):209-12. PubMed ID: 15666313
[TBL] [Abstract][Full Text] [Related]
13. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D; Vriens J; Camacho N; Luong P; Deixler H; Funari TL; Bacino CA; Irons MB; Holm IA; Sadler L; Okenfuss EB; Janssens A; Voets T; Rimoin DL; Lachman RS; Nilius B; Cohn DH
Am J Hum Genet; 2009 Mar; 84(3):307-15. PubMed ID: 19232556
[TBL] [Abstract][Full Text] [Related]
14. Severe neonatal spondylometaphyseal dysplasia in two siblings.
Czarny-Ratajczak M; Chrzanowska K; Bieganski T; Sulko J; Baranska D; Kocyla-Karczmarewicz B; Kuszel L; Jakubowski L; Niedzielski K; Kozlowski K
Am J Med Genet A; 2009 Oct; 149A(10):2166-72. PubMed ID: 19764033
[TBL] [Abstract][Full Text] [Related]
15. AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K; Barnicoat A; Offiah AC; Calder AD; Mankad K; Thomas NS; Bunyan DJ; Williams M; Buxton C; Majumdar A; Vijayakumar K; Hilliard T; Turner J; Burren CP; Monsell F; Smithson SF
Am J Med Genet A; 2021 Apr; 185(4):1228-1235. PubMed ID: 33439541
[TBL] [Abstract][Full Text] [Related]
16. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
Pekkinen M; Terhal PA; Botto LD; Henning P; Mäkitie RE; Roschger P; Jain A; Kol M; Kjellberg MA; Paschalis EP; van Gassen K; Murray M; Bayrak-Toydemir P; Magnusson MK; Jans J; Kausar M; Carey JC; Somerharju P; Lerner UH; Olkkonen VM; Klaushofer K; Holthuis JC; Mäkitie O
JCI Insight; 2019 Apr; 4(7):. PubMed ID: 30779713
[TBL] [Abstract][Full Text] [Related]
17. Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
Singh S; Shah H; Dalal A; Shukla A; Bhavani GS; Girisha KM
Am J Med Genet A; 2024 Aug; 194(8):e63601. PubMed ID: 38562122
[TBL] [Abstract][Full Text] [Related]
18. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
Matsui Y; Yasui N; Kawabata H; Ozono K; Nakata K; Mizushima T; Tsumaki N; Kataoka E; Fujita Y; Ochi T
J Hum Genet; 2000; 45(2):105-8. PubMed ID: 10721676
[TBL] [Abstract][Full Text] [Related]
19. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
Chen J; Ma X; Zhou Y; Li G; Guo Q
BMC Pediatr; 2017 Jul; 17(1):175. PubMed ID: 28738883
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]