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68 results

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Page 1
Kidney disease in nail-patella syndrome.
Lemley KV. Lemley KV. Pediatr Nephrol. 2009 Dec;24(12):2345-54. doi: 10.1007/s00467-008-0836-8. Epub 2008 Jun 6. Pediatr Nephrol. 2009. PMID: 18535845 Free PMC article. Review.
Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. ...
Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. ...
The Risks and Benefits of Cannabis in the Dermatology Clinic.
Dhadwal G, Kirchhof MG. Dhadwal G, et al. J Cutan Med Surg. 2018 Mar/Apr;22(2):194-199. doi: 10.1177/1203475417738971. Epub 2017 Oct 23. J Cutan Med Surg. 2018. PMID: 29056081 Review.
There are several approved medical indications for cannabis use, including psoriasis, lupus, nail-patella syndrome, and severe pain. In addition, very preliminary studies have suggested cannabis and its derivatives might have use in acne, dermatitis, pruritus …
There are several approved medical indications for cannabis use, including psoriasis, lupus, nail-patella syndrome, and …
Genetic hair and nail disorders.
Sprecher E. Sprecher E. Clin Dermatol. 2005 Jan-Feb;23(1):47-55. doi: 10.1016/j.clindermatol.2004.09.009. Clin Dermatol. 2005. PMID: 15708289 Review.
Nail patella syndrome.
Das CJ, Debnath J. Das CJ, et al. Indian J Pediatr. 2009 Oct;76(10):1077. doi: 10.1007/s12098-009-0197-8. Indian J Pediatr. 2009. PMID: 19907953 No abstract available.
Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.
Geerts-Crabbé L, Antoine P, Brugallé E, Ghoumid J, Bellengier L, Edery P, Heron D, Manouvrier-Hanu S, Fantini-Hauwel C. Geerts-Crabbé L, et al. J Genet Couns. 2019 Oct;28(5):1011-1020. doi: 10.1002/jgc4.1153. Epub 2019 Jul 16. J Genet Couns. 2019. PMID: 31313463
Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. ...
Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three …
Nail-patella syndrome and renal involvement. Description of three cases and literature review.
Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E, Fiore CE, Mignani R. Granata A, et al. Clin Nephrol. 2008 May;69(5):377-82. doi: 10.5414/cnp69377. Clin Nephrol. 2008. PMID: 18538102 Review.
Nail-patella syndrome (NPS) is a rare, autosomal dominant disorder reported in approximatively 1/50,000 individuals. ...
Nail-patella syndrome (NPS) is a rare, autosomal dominant disorder reported in approximatively 1/50,000 individuals. .. …
Nail-patella syndrome: long term evolution.
Beguiristáin JL, de Rada PD, Barriga A. Beguiristáin JL, et al. J Pediatr Orthop B. 2003 Jan;12(1):13-6. doi: 10.1097/01.bpb.0000043727.21564.e9. J Pediatr Orthop B. 2003. PMID: 12488765
Nail-patella syndrome is a rare dysplasia characterized by a typical tetrad: hypoplasic nails, hypoplasic or absent patella, radial head dislocation and iliac horns. ...
Nail-patella syndrome is a rare dysplasia characterized by a typical tetrad: hypoplasic nails, hypoplasic or absent pat …
Nail-patella syndrome: report of 11 pediatric cases.
Figueroa-Silva O, Vicente A, Agudo A, Baliu-Piqué C, Gómez-Armayones S, Aldunce-Soto MJ, Inarejos Clemente EJ, Navallas Irujo M, Gutiérrez de la Iglesia D, González-Enseñat MA. Figueroa-Silva O, et al. J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1614-7. doi: 10.1111/jdv.13683. Epub 2016 Apr 25. J Eur Acad Dermatol Venereol. 2016. PMID: 27109743
BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. ...The genetic study revealed three different LMX1B mutations. CONCLUSION: Nail-patella syndrome is a rare disorder. The aim of the p …
BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. ...The genetic …
Nail-patella syndrome and its association with glaucoma: a review of eight families.
Mimiwati Z, Mackey DA, Craig JE, Mackinnon JR, Rait JL, Liebelt JE, Ayala-Lugo R, Vollrath D, Richards JE. Mimiwati Z, et al. Br J Ophthalmol. 2006 Dec;90(12):1505-9. doi: 10.1136/bjo.2006.092619. Epub 2006 Jul 6. Br J Ophthalmol. 2006. PMID: 16825280 Free PMC article.
BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. ...
BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, …
Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
Lei L, Oh G, Sutherland S, Abra G, Higgins J, Sibley R, Troxell M, Kambham N. Lei L, et al. Pediatr Nephrol. 2020 Sep;35(9):1647-1657. doi: 10.1007/s00467-020-04564-w. Epub 2020 Apr 30. Pediatr Nephrol. 2020. PMID: 32356190
Genetic testing in both families revealed the same heterozygous missense mutation in LMX1B (C.737G>A, p.Arg246Gln). LMX1B mutations are known to cause nail-patella syndrome, featuring dysplastic nails and patella with or without nephropathy, as well as iso …
Genetic testing in both families revealed the same heterozygous missense mutation in LMX1B (C.737G>A, p.Arg246Gln). LMX1B mutations are k …
68 results