Results 41 to 50 of about 3,517 (182)

A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome [PDF]

, 2009
The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance.
Bongers, Clough, Dreyer, Du, Eui Jin Choi, Hamlington, Han, Ho Cheol Song, Hye Young Sung, Jin Soo Choi, Joo Ho Ham, Joong Seok Kim, Koo, Kyu Re Joo, Lichter, Lubec, McIntosh, McIntosh, Sato, Seok Joon Shin, Sung Min Park, Vollrath, Yeong Jin Choi   +22 more
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Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia

Advanced Biomedical Research, 2014
Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol), Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia
Gholamhossein Ghaffarpour, Alireza Faghihi, Mohammadreza Ghasemi, Gelareh Ghaffarpour   +3 more
doaj   +1 more source

Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]

, 2013
Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga, Carpenter, Gillian, Colnaghi, Rita, Kerzendorfer, Claudia, O'Driscoll, Mark   +4 more
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Focal segmental glomerulosclerosis: Molecular genetics and targeted therapies [PDF]

, 2015
Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2.
Chen, Ying Maggie, Liapis, Helen
core   +2 more sources

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability [PDF]

, 2015
Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development.
Forecki, J. (Jennifer), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Leguin, M. (Maarten), Mathijssen, I.M.J. (Irene), McGowan, S.J. (Simon J.), Merzdorf, C.S. (Christa S.), Miller, K.A. (Kerry A.), Ouweland, A.M.W. (Ans) van den, Pauws, E. (Erwin), Richardson, I.C.A. (Ivy C.A.), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Twigg, S.R.F. (Stephen), Van antwerp, D. (Daniel), Wall, S.A. (Steven), Westbury, I. (Isabelle), Wilkie, A.O.M. (Andrew)   +17 more
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Nail-Patella Syndrome: A Case Report

Proceedings of Singapore Healthcare, 2013
Nail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene.
Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED, Li Ching Chew BMed Sci, BMBS, MRCP   +1 more
doaj   +1 more source

Bilateral congenital absence of the patella in an adult: case report [PDF]

, 2018
Bilaterally absent patella is a rare clinical entity. Most documented cases occur in association with Nail- Patella Syndrome. This patient presented at 60 years of age with severe bilateral knee arthritis and was found to have bilaterally absent patella ...
Murithi, J.K., Noorani, S.K., Rashid, M.M.   +2 more
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Prevalence of Disorders Recorded in Dogs Attending Primary-Care Veterinary Practices in England [PDF]

, 2014
Purebred dog health is thought to be compromised by an increasing occurence of inherited diseases but inadequate prevalence data on common disorders have hampered efforts to prioritise health reforms. Analysis of primary veterinary practice clinical data
A Agresti, A Egenvall, A Egenvall, A Egenvall, A Egenvall, A Hillier, A Kathrani, A Neuber, AB Stone, AJ German, AJ German, AM Lourenço-Martins, B Wilson, BN Bonnett, C Albuquerque, C Mellersh, Cheryl S. Rosenfeld, CL Aragon, Dan G. O′Neill, Dave C. Brodbelt, David B. Church, DD Sleator, DN Irion, DR Ownby, E Friedmann, EM Lund, F Walsh, FC Calboli, FD McMillan, FJD Smith, G Chodick, G Dank, G Leroy, GC Knight, GM Gobar, GP Page, H Soll-Johanning, HD Pedersen, HE Hein, J Virués-Ortega, JE Houlton, JF Summers, JI Hudson, JK Murray, JLN Wood, JM Fleming, JS Rand, KD Mandl, L Asher, L Asher, L Kearsley-Fleet, LM Collins, LM Collins, M Aickin, MB Willis, MK Rust, MP Starkey, MR Slater, MW Neff, MY Powers, N Pearce, NJ Rooney, NJ Rooney, P Froom, P Royston, Paul D. McGreevy, PC Bartlett, PD McGreevy, PD McGreevy, Peter C. Thomson, PM Mountziaris, R Bender, R Feise, R Marsella, R Medzhitov, RM Batt, RMA Packer, S Brady, S Crispin, S Greenland, S Platt, SFJ Hodgman, T Lewis, T Lewis, TP Bellumori, TW Lewis, U John, VJ Adams, WB Lober, Å Vilson   +89 more
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Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

BMC Nephrology, 2020
Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail ...
Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann   +7 more
doaj   +1 more source

Síndrome uña-rótula [PDF]

, 1992
Presentamos el estudio de 3 casos afectos de un síndrome "uña-rótula", con historia familiar positiva en uno de ellos. Este síndrome es un transtorno hereditario de transmisión autosómica dominante, caracterizado por displasia ungueal y de articulacione ...
Aracil Silvestre, J., Gisbert Vicens, J., Pina Medina, A.   +2 more
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