Oldridge M - Search Results

1

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: oldridge m. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.

2

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Al-Yassin A, Calder AD, Harrison M, Lester T, Lord H, Oldridge M, Watkins S, Keen R, Wakeling EL. Al-Yassin A, et al. Among authors: oldridge m. Eur J Hum Genet. 2018 Sep;26(9):1288-1293. doi: 10.1038/s41431-018-0166-7. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891876 Free PMC article.

3

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Bowman M, Oldridge M, Archer C, O'Rourke A, McParland J, Brekelmans R, Seller A, Lester T. Bowman M, et al. Among authors: oldridge m. Eur J Hum Genet. 2012 Jul;20(7):769-77. doi: 10.1038/ejhg.2012.2. Epub 2012 Feb 8. Eur J Hum Genet. 2012. PMID: 22317976 Free PMC article.

4

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D. Cossins J, et al. Among authors: oldridge m. Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1. Hum Mol Genet. 2012. PMID: 22661499

5

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Afzal AR, et al. Among authors: oldridge m. Nat Genet. 2000 Aug;25(4):419-22. doi: 10.1038/78107. Nat Genet. 2000. PMID: 10932186

6

Genital anomalies in a patient with Treacher Collins syndrome.

Writzl K, Jeruc J, Oldridge M, Peterlin B, Hennekam RC. Writzl K, et al. Among authors: oldridge m. Am J Med Genet A. 2008 Aug 15;146A(16):2169-71. doi: 10.1002/ajmg.a.32404. Am J Med Genet A. 2008. PMID: 18627048 No abstract available.

7

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO. Oldridge M, et al. Nat Genet. 2000 Mar;24(3):275-8. doi: 10.1038/73495. Nat Genet. 2000. PMID: 10700182

8

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. Wilkie AO, et al. Among authors: oldridge m. Nat Genet. 1995 Feb;9(2):165-72. doi: 10.1038/ng0295-165. Nat Genet. 1995. PMID: 7719344

9

Exclusive paternal origin of new mutations in Apert syndrome.

Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO. Moloney DM, et al. Among authors: oldridge m. Nat Genet. 1996 May;13(1):48-53. doi: 10.1038/ng0596-48. Nat Genet. 1996. PMID: 8673103

10

Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation.

Nixon J, Oldridge M, Wilkie AO, Smith K. Nixon J, et al. Among authors: oldridge m. Am J Med Genet. 1997 Jun 13;70(3):324-7. Am J Med Genet. 1997. PMID: 9188674

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

30 results

Search Page