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Items: 40

1.

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Nixon TRW, Alexander P, Richards A, McNinch A, Bearcroft PWP, Cobben J, Snead MP.

Am J Med Genet A. 2019 Aug;179(8):1498-1506. doi: 10.1002/ajmg.a.61191. Epub 2019 May 14.

PMID:
31090205
2.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, McNinch A, Sandford RN, Snead MP.

Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316-y. Epub 2018 Dec 19.

3.

Stickler syndrome in children: a radiological review.

McArthur N, Rehm A, Shenker N, Richards AJ, McNinch AM, Poulson AV, Tanner J, Snead MP, Bearcroft PWP.

Clin Radiol. 2018 Jul;73(7):678.e13-678.e18. doi: 10.1016/j.crad.2018.03.004. Epub 2018 Apr 13. Review.

PMID:
29661559
4.

Posterior Vitreous Detachment and the Posterior Hyaloid Membrane.

Fincham GS, James S, Spickett C, Hollingshead M, Thrasivoulou C, Poulson AV, McNinch A, Richards A, Snead D, Limb GA, Snead MP.

Ophthalmology. 2018 Feb;125(2):227-236. doi: 10.1016/j.ophtha.2017.08.001. Epub 2017 Sep 1.

5.

Type I membranous anomaly in Stickler syndrome.

Alexander P, Poulson A, McNinch A, Richards A, Snead M.

Ophthalmic Genet. 2018 Jan-Feb;39(1):147. doi: 10.1080/13816810.2017.1326510. Epub 2017 May 30. No abstract available.

PMID:
28557656
6.

Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.

Spickett C, Hysi P, Hammond CJ, Prescott A, Fincham GS, Poulson AV, McNinch AM, Richards AJ, Snead MP.

Hum Mutat. 2016 Oct;37(10):1085-96. doi: 10.1002/humu.23050. Epub 2016 Aug 21.

PMID:
27406592
7.

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. doi: 10.1038/eye.2014.334. Epub 2015 Jan 16.

8.

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.

Fincham GS, Pasea L, Carroll C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP.

Ophthalmology. 2014 Aug;121(8):1588-97. doi: 10.1016/j.ophtha.2014.02.022. Epub 2014 May 1.

9.

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP.

J Med Genet. 2013 Nov;50(11):765-71. doi: 10.1136/jmedgenet-2012-101499. Epub 2013 Aug 6.

10.

Vitamin K deficiency bleeding after NICE guidance and withdrawal of Konakion Neonatal: British Paediatric Surveillance Unit study, 2006-2008.

Busfield A, Samuel R, McNinch A, Tripp JH.

Arch Dis Child. 2013 Jan;98(1):41-7. doi: 10.1136/archdischild-2011-301029. Epub 2012 Nov 12.

PMID:
23148314
11.

Clinical phenotypes associated with type II collagen mutations.

Hanspal I, McNinch A, Richards A, Snead M.

J Paediatr Child Health. 2012 Oct;48(10):949-50. doi: 10.1111/j.1440-1754.2012.02570.x. No abstract available.

PMID:
23094629
12.

Somatic mosaicism and the phenotypic expression of COL2A1 mutations.

Nagendran S, Richards AJ, McNinch A, Sandford RN, Snead MP.

Am J Med Genet A. 2012 May;158A(5):1204-7. doi: 10.1002/ajmg.a.35303. Epub 2012 Apr 11.

PMID:
22496037
13.

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.

Richards AJ, McNinch A, Whittaker J, Treacy B, Oakhill K, Poulson A, Snead MP.

Eur J Hum Genet. 2012 May;20(5):552-8. doi: 10.1038/ejhg.2011.223. Epub 2011 Dec 21.

14.

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ.

Eye (Lond). 2011 Nov;25(11):1389-400. doi: 10.1038/eye.2011.201. Epub 2011 Sep 16. Review.

15.

Effect of preoperative exercise on postoperative mobility in obese total joint replacement patients.

Robbins CE, Bono JV, Ward DM, Barry MT, Doren J, McNinch A.

Orthopedics. 2010 Sep 7;33(9):666. doi: 10.3928/01477447-20100722-09.

PMID:
20839706
16.

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP.

Hum Mutat. 2010 Jun;31(6):E1461-71. doi: 10.1002/humu.21257.

PMID:
20513134
17.

Vitamin K deficiency bleeding: early history and recent trends in the United Kingdom.

McNinch A.

Early Hum Dev. 2010 Jul;86 Suppl 1:63-5. doi: 10.1016/j.earlhumdev.2010.01.017. Epub 2010 Feb 18. Review.

PMID:
20167443
18.
19.
20.

Congenital para-oesophageal hiatus hernia: an interesting family history.

Rees JE, Robertson S, McNinch AW.

Emerg Med J. 2004 Nov;21(6):749-50. No abstract available.

21.

Early intervention best practice: collaboration among an NICU, an early intervention program, and an NICU follow-up program.

Hussey-Gardner B, McNinch A, Anastasi JM, Miller M.

Neonatal Netw. 2002 Apr;21(3):15-22.

PMID:
12943207
22.

Zygomycosis in relapsed acute leukaemia.

Parkyn T, McNinch AW, Riordan T, Mott M.

J Infect. 2000 Nov;41(3):265-8.

PMID:
11120617
23.

The vitamin K debacle: cut the Gordian knot.

Tripp JH, McNinch AW.

Arch Dis Child. 1999 Oct;81(4):372. No abstract available.

24.

Vitamin K deficiency bleeding (VKDB) in infancy. ISTH Pediatric/Perinatal Subcommittee. International Society on Thrombosis and Haemostasis.

Sutor AH, von Kries R, Cornelissen EA, McNinch AW, Andrew M.

Thromb Haemost. 1999 Mar;81(3):456-61. Review.

PMID:
10102477
25.

A possible secondary case of pneumococcal meningitis.

Razzaq N, Riordan T, McNinch AW, Daneshmend TK.

J Infect. 1998 Nov;37(3):290-1.

PMID:
9892535
26.

The vitamin K debacle: cut the Gordian knot but first do no harm.

Tripp JH, McNinch AW.

Arch Dis Child. 1998 Oct;79(4):295-7. No abstract available.

27.

The vitamin K story.

McNinch A.

Midwives (1995). 1997 Mar;110(1310):56-8. Review. No abstract available.

PMID:
9136433
28.

Repeated cytogenetic culture failure as an indicator of immunodeficiency.

Barber JC, Walker JM, Barker MR, McNinch AW, Hallett RJ.

Lancet. 1996 Nov 30;348(9040):1518. No abstract available.

PMID:
8942803
29.

Neonatal vitamin K prophylaxis in the British Isles: current practice and trends.

Barton JS, Tripp JH, McNinch AW.

BMJ. 1995 Mar 11;310(6980):632-3. No abstract available.

30.

Oral vitamin K prophylaxis and frequency of late vitamin K deficiency bleeding.

Barton JS, McNinch AW, Tripp JH.

Lancet. 1994 May 7;343(8906):1168. No abstract available.

PMID:
7910262
31.

Vitamin K for neonates: the controversy.

Draper G, McNinch A.

BMJ. 1994 Apr 2;308(6933):867-8. No abstract available.

32.

Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.

Donaldson MD, Thomas PH, Love JG, Murray GD, McNinch AW, Savage DC.

Arch Dis Child. 1994 Mar;70(3):214-8.

33.

Voodoo, videos and fits: another presentation of truancy.

Eden OB, McNinch AW.

Eur J Pediatr. 1992 Dec;151(12):918. No abstract available.

PMID:
1473548
34.
35.

Haemorrhagic disease and vitamin K.

Tripp JH, McNinch AW.

Arch Dis Child. 1987 May;62(5):436-7. No abstract available.

36.

Plasma concentrations after oral or intramuscular vitamin K1 in neonates.

McNinch AW, Upton C, Samuels M, Shearer MJ, McCarthy P, Tripp JH, L'E Orme R.

Arch Dis Child. 1985 Sep;60(9):814-8.

37.

Reversible inhibition of central precocious puberty with a long acting GnRH analogue.

Ward PS, Ward I, McNinch AW, Savage DC.

Arch Dis Child. 1985 Sep;60(9):872-4.

38.

Hypoglycemia during illness in children with congenital adrenal hyperplasia.

McNinch AW, Savage DC.

Br Med J (Clin Res Ed). 1985 Jan 19;290(6463):243. No abstract available.

39.

Haemorrhagic disease of the newborn returns.

McNinch AW, Orme RL, Tripp JH.

Lancet. 1983 May 14;1(8333):1089-90. No abstract available.

PMID:
6133116
40.

Physiological interrelations during intermittent and continuous exercise with the same average power output in man.

Edwards RH, Hesser CM, Jack I, Melcher A, McNinch AM, Wells RD, Wigertz O.

Acta Physiol Scand. 1970 Dec;80(4):33A-34A. No abstract available.

PMID:
5493800

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