PMC Articles for MedGen (Select 347068) - PMC

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Items: 8

Select item 60811441.

Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports

Yue Gao, Zhi-Min Wang, Xia-Lian Li

Medicine (Baltimore) 2018 Aug; 97(31): e11453. Published online 2018 Aug 3. doi: 10.1097/MD.0000000000011453

PMCID:: PMC6081144

Abstract Article PDF–573K

Select item 48163602.

Ophthalmic and molecular genetic findings in Kniest dysplasia

P I Sergouniotis, G S Fincham, A M McNinch, C Spickett, A V Poulson, A J Richards, M P Snead

Eye (Lond) 2015 Apr; 29(4): 475–482. Published online 2015 Jan 16. doi: 10.1038/eye.2014.334

PMCID:: PMC4816360

Abstract Article PDF–541K

Select item 70256723.

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country

Jessica María Forero-Delgadillo, Daniela Cleves, Vanessa Ochoa, Hernando Londoño-Correa, Jaime Manuel Restrepo, José Antonio Nastasi-Catanese, Harry Pachajoa

Appl Clin Genet. 2020; 13: 57–62. Published online 2020 Feb 13. doi: 10.2147/TACG.S232448

PMCID:: PMC7025672

Abstract Article PDF–790K

Select item 61321444.

Novel TRPV4 variant causes a severe form of metatropic dysplasia

Lise Graversen, Annette Haagerup, Brian N. Andersen, Karin K. Petersen, Vibike Gjørup, Gudrun Gudmundsdottir, Ida Vogel, Pernille A. Gregersen

Clin Case Rep. 2018 Sep; 6(9): 1774–1778. Published online 2018 Jul 20. doi: 10.1002/ccr3.1598

PMCID:: PMC6132144

Abstract Article PDF–481K

Select item 33622205.

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

D. Wolff, S. Endele, S. Azzarello-Burri, J. Hoyer, M. Zweier, I. Schanze, B. Schmitt, A. Rauch, A. Reis, C. Zweier

Mol Syndromol. 2012 Apr; 2(6): 237–244. Published online 2012 Mar 16. doi: 10.1159/000337323

PMCID:: PMC3362220

Abstract Article PDF–592K

Select item 21913686.

Variability of a bacterial surface protein and disease expression in a possible mouse model of systemic Lyme borreliosis

J Exp Med. 1994 Feb 1; 179(2): 631–642. doi: 10.1084/jem.179.2.631

PMCID:: PMC2191368

Summary PDF–1.8M

Select item 5459897.

Vitamin D-responsive rickets in neonatal lambs

Robert J. Van Saun

Can Vet J. 2004 Oct; 45(10): 841–844.

PMCID:: PMC545989

Abstract Article PDF–64K

Select item 3153498.

Experimental Arthritis in Mice with Mycoplasma pulmonis

Jerri A. Barden, Joseph G. Tully

J Bacteriol. 1969 Oct; 100(1): 5–10. doi: 10.1128/jb.100.1.5-10.1969

PMCID:: PMC315349

Summary Page Browse PDF–1.2M

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PMC Articles for MedGen (Select 347068) (8)
PMC
NADH dehydrogenase subunit 5 (mitochondrion) [Manouria emys]
NADH dehydrogenase subunit 5 (mitochondrion) [Manouria emys]
gi|84488771|gnl|NCBI_MITO|ND5_19109 YP_448813.1|

Protein
high mobility group protein B2, partial [Manouria emys emys]
high mobility group protein B2, partial [Manouria emys emys]
gi|1959488690|gb|QQX10339.1|

Protein
Indotestudo elongata voucher RBSV013 cytochrome c oxidase subunit I (COX1) gene,...
Indotestudo elongata voucher RBSV013 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrial
gi|2323175921|gb|OP740994.1|

Nucleotide
unnamed protein product [Arabidopsis lyrata]
unnamed protein product [Arabidopsis lyrata]
gi|2274917905|emb|CAH8258852.1||gnl CALY|CAH8258852

Protein

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