165 related articles for article (PubMed ID: 23420745)
1. Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.
Al Kaissi A; Ganger R; Roetzer KM; Schwarzbraun T; Klaushofer K; Grill F
Orthop Surg; 2013 Feb; 5(1):33-9. PubMed ID: 23420745
[TBL] [Abstract][Full Text] [Related]
2. Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia.
Takata Y; Lenke LG; Kelly MP
Spine Deform; 2020 Feb; 8(1):135-138. PubMed ID: 31950479
[TBL] [Abstract][Full Text] [Related]
3. Ophthalmic and molecular genetic findings in Kniest dysplasia.
Sergouniotis PI; Fincham GS; McNinch AM; Spickett C; Poulson AV; Richards AJ; Snead MP
Eye (Lond); 2015 Apr; 29(4):475-82. PubMed ID: 25592122
[TBL] [Abstract][Full Text] [Related]
4. Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue?
Husain Q; Cho J; Neugarten J; Modi VK
Int J Pediatr Otorhinolaryngol; 2017 Feb; 93():97-99. PubMed ID: 28109507
[TBL] [Abstract][Full Text] [Related]
5. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T; Dai J; Cho TJ; Sakazume S; Ikema M; Matsui Y; Baynam G; Nagai T; Miyake N; Matsumoto N; Ohashi H; Unger S; Superti-Furga A; Kim OH; Nishimura G; Ikegawa S
J Med Genet; 2011 Jan; 48(1):32-7. PubMed ID: 21037275
[TBL] [Abstract][Full Text] [Related]
6. Association between Kniest dysplasia and chondrosarcoma in a child.
Hochart A; Dieux A; Coucke P; Fron D; Fayoux P; Labalette P; Boutry N; Escande F; Aubert S; Renaud F; Rocourt N; Vinchon M; Leblond P
Am J Med Genet A; 2015 Dec; 167A(12):3204-8. PubMed ID: 26345137
[TBL] [Abstract][Full Text] [Related]
7. Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report.
Tetreault A; Ramalingam W; Black J; Miller NH; Donaldson N
JBJS Case Connect; 2018; 8(4):e78. PubMed ID: 30303846
[TBL] [Abstract][Full Text] [Related]
8. [Kniest dysplasia due to mutation of COL2A1 gene].
Wu M; Liu L; Zhou Z; Sheng H; Yin X; Li X; Cheng J; Huang Y; Cai Y; Li C; Fan L; Liu H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):323-6. PubMed ID: 26037341
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene.
Forster KR; Hooper JE; Blakemore KJ; Baschat AA; Hoover-Fong J
Am J Med Genet A; 2019 Dec; 179(12):2490-2493. PubMed ID: 31587486
[TBL] [Abstract][Full Text] [Related]
10. Anaesthesia and orphan disease: a child with Wolcott-Rallison syndrome.
Romera AC; Hervías M; López-Gil MT; Tranche I
Eur J Anaesthesiol; 2015 Mar; 32(3):217-8. PubMed ID: 25101713
[No Abstract] [Full Text] [Related]
11. Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
Silveira C; Leal GF; Cavalcanti DP
Am J Med Genet A; 2016 Nov; 170(11):3043-3047. PubMed ID: 27481334
[No Abstract] [Full Text] [Related]
12. A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
Kuroda Y; Murakami H; Enomoto Y; Tsurusaki Y; Takahashi K; Mitsuzuka K; Ishimoto H; Nishimura G; Kurosawa K
Clin Genet; 2019 Jun; 95(6):713-717. PubMed ID: 30847897
[TBL] [Abstract][Full Text] [Related]
13. A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.
Menzies L; Cullup T; Calder A; Wilson L; Faravelli F
Clin Dysmorphol; 2019 Oct; 28(4):219-223. PubMed ID: 31348018
[No Abstract] [Full Text] [Related]
14. Desbuquois dysplasia Kim variant: a rare case report syndrome.
Agrawal N; Srivastava P; Phadke SR
Clin Dysmorphol; 2021 Jan; 30(1):62-65. PubMed ID: 33136656
[No Abstract] [Full Text] [Related]
15. Occipitocervical fusion in skeletal dysplasia: a new surgical technique.
Sitoula P; Mackenzie WG; Shah SA; Thacker M; Ditro C; Holmes L; Campbell JW; Rogers KJ
Spine (Phila Pa 1976); 2014 Jul; 39(15):E912-8. PubMed ID: 24825152
[TBL] [Abstract][Full Text] [Related]
16. First European Case of Simultaneous Liver and Pancreas Transplantation as Treatment of Wolcott-Rallison Syndrome in a Small Child.
Nordström J; Lundgren M; Jorns C; Fischler B; Arnell H; Dlugosz R; Sandberg J; Wennberg L; Nowak G
Transplantation; 2020 Mar; 104(3):522-525. PubMed ID: 31335762
[TBL] [Abstract][Full Text] [Related]
17. Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndrome.
Tzakis AG; Nunnelley MJ; Tekin A; Buccini LD; Garcia J; Uchida K; Neville HL; Nares MA; Ruiz P; Bodamer O
Am J Transplant; 2015 Feb; 15(2):565-7. PubMed ID: 25384546
[TBL] [Abstract][Full Text] [Related]
18. Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
Mizumoto S; Yamada S; Sugahara K
Biomed Res Int; 2015; 2015():861752. PubMed ID: 26582078
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
Jamsheer A; Olech EM; Kozłowski K; Niedziela M; Sowińska-Seidler A; Obara-Moszyńska M; Latos-Bieleńska A; Karczewski M; Zemojtel T
J Hum Genet; 2016 Jul; 61(7):577-83. PubMed ID: 27030147
[TBL] [Abstract][Full Text] [Related]
20. Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T; Kenis V; Melchenko E; Osipova D; Nagornova T; Orlova A; Zakharova E; Dadali E; Kutsev S
Genes (Basel); 2022 Jan; 13(1):. PubMed ID: 35052477
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]