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Items: 1 to 50 of 89

1.

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A, Study TDDD, Blair E, Taylor JC, Stewart H.

Clin Genet. 2019 Mar 12. doi: 10.1111/cge.13533. [Epub ahead of print]

PMID:
30859559
2.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. No abstract available.

3.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
4.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2018 Dec 6;103(6):1054-1055.

PMID:
30343942
5.

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, Hawkins N, Halbersma-Konings TF, Jackson L, Kayserili H, Kelly SE, Lucassen AM, Mendes Á, Rial-Sebbag E, Stefánsdóttir V, Turnpenny PD, van El CG, van Langen IM, Cornel MC, Forzano F; European Society of Human Genetics.

Eur J Hum Genet. 2019 Feb;27(2):169-182. doi: 10.1038/s41431-018-0285-1. Epub 2018 Oct 11.

6.

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P.

Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006.

7.

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Döcker M, Fleck T, Mosca I, Manocchio L, Iraci N, Taglialatela M, Lemke JR.

Ann Neurol. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.

PMID:
29740868
8.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG, Armstrong R, McEntagart M, Newbury-Ecob R, Tobias ES; DDD Study, Joss S.

Eur J Med Genet. 2019 Jan;62(1):27-34. doi: 10.1016/j.ejmg.2018.04.014. Epub 2018 Apr 23.

PMID:
29698805
9.

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.

Sirchia F, Carrieri D, Dheensa S, Benjamin C, Kayserili H, Cordier C, van El CG, Turnpenny PD, Melegh B, Mendes Á, Halbersma-Konings TF, van Langen IM, Lucassen AM, Clarke AJ, Forzano F, Kelly SE.

Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.

PMID:
29681620
10.

Spondylocostal Dysostosis, Autosomal Recessive.

Turnpenny PD, Sloman M, Dunwoodie S; ICVS (International Consortium for Vertebral Anomalies and Scoliosis).

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Aug 25 [updated 2017 Dec 21].

11.

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.

Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA.

Am J Med Genet A. 2018 Jan;176(1):253-256. doi: 10.1002/ajmg.a.38550. Epub 2017 Nov 21.

PMID:
29159998
12.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S.

Prenat Diagn. 2018 Jan;38(1):33-43. doi: 10.1002/pd.5175. Epub 2017 Dec 3.

13.

Recontacting in clinical practice: the views and expectations of patients in the United Kingdom.

Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turnpenny PD, Lucassen AM, Kelly SE.

Eur J Hum Genet. 2017 Oct;25(10):1106-1112. doi: 10.1038/ejhg.2017.122. Epub 2017 Aug 2.

14.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.

15.

De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.

Rawlins LE, Stals KL, Eason JD, Turnpenny PD.

Clin Dysmorphol. 2017 Apr;26(2):95-97. doi: 10.1097/MCD.0000000000000144. No abstract available.

PMID:
28263952
16.

Recontacting in clinical genetics and genomic medicine? We need to talk about it.

Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turnpenny PD, Lucassen AM, Kelly SE.

Eur J Hum Genet. 2017 May;25(5):520-521. doi: 10.1038/ejhg.2017.8. Epub 2017 Feb 8. No abstract available.

17.

Digesting GWAS.

Turnpenny PD.

Cell Mol Gastroenterol Hepatol. 2016 Jul 28;2(5):542-543. doi: 10.1016/j.jcmgh.2016.07.003. eCollection 2016 Sep. No abstract available.

18.

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom.

Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turnpenny PD, Lucassen AM, Kelly SE.

Eur J Hum Genet. 2017 Feb;25(3):275-279. doi: 10.1038/ejhg.2016.188. Epub 2017 Jan 4.

19.

Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom.

Carrieri D, Lucassen AM, Clarke AJ, Dheensa S, Doheny S, Turnpenny PD, Kelly SE.

Genet Med. 2016 Sep;18(9):876-81. doi: 10.1038/gim.2015.194. Epub 2016 Feb 18.

20.

Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31).

Osio D, Jain N, Archer N, Turnpenny PD.

Clin Dysmorphol. 2015 Jul;24(3):132-4. doi: 10.1097/MCD.0000000000000082. No abstract available.

PMID:
25714558
21.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study, Magee AC, Turnpenny PD, Baralle D.

J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.

22.

Factors determining penetrance in familial atypical haemolytic uraemic syndrome.

Sansbury FH, Cordell HJ, Bingham C, Bromilow G, Nicholls A, Powell R, Shields B, Smyth L, Warwicker P, Strain L, Wilson V, Goodship JA, Goodship TH, Turnpenny PD.

J Med Genet. 2014 Nov;51(11):756-64. doi: 10.1136/jmedgenet-2014-102498. Epub 2014 Sep 26.

PMID:
25261570
23.

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.

Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CL, Weedon MN, Ellard S.

J Med Genet. 2014 Apr;51(4):264-7. doi: 10.1136/jmedgenet-2013-102142. Epub 2014 Jan 23.

24.

From the Ottomans to the present day: 150 years of Scottish medical charity in the Holy Land.

Turnpenny PD.

BMJ. 2013 Dec 12;347:f6994. doi: 10.1136/bmj.f6994. No abstract available.

PMID:
24336306
25.

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, Turnpenny PD, Dunwoodie SL.

Am J Med Genet A. 2013 Sep;161A(9):2244-9. doi: 10.1002/ajmg.a.36073. Epub 2013 Jul 29.

PMID:
23897666
26.

Neuropsychiatric disease in patients with periventricular heterotopia.

Fry AE, Kerr MP, Gibbon F, Turnpenny PD, Hamandi K, Stoodley N, Robertson SP, Pilz DT.

J Neuropsychiatry Clin Neurosci. 2013 Winter;25(1):26-31. doi: 10.1176/appi.neuropsych.11110336. Erratum in: J Neuropsychiatry Clin Neurosci. 2013 Spring;25(2):170.

PMID:
23487190
27.

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A.

Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30.

28.

Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?

Phadke SR, Ranganath P, Boggula VR, Gupta D, Phadke RV, Sloman M, Turnpenny PD.

Am J Med Genet A. 2012 Dec;158A(12):3065-70. doi: 10.1002/ajmg.a.35607. Epub 2012 Nov 19.

PMID:
23166036
29.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS.

Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.

30.

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B.

Am J Med Genet A. 2012 May;158A(5):1102-10. doi: 10.1002/ajmg.a.35296. Epub 2012 Apr 11.

31.

Alagille syndrome: pathogenesis, diagnosis and management.

Turnpenny PD, Ellard S.

Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Epub 2011 Sep 21. Review.

32.

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.

Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW.

Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b. No abstract available.

33.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N.

Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8.

34.

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).

Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA.

Pediatr Radiol. 2011 Mar;41(3):384-8. doi: 10.1007/s00247-010-1928-8. Epub 2010 Dec 22.

PMID:
21174082
35.

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD.

Am J Med Genet A. 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471.

PMID:
20503311
36.

Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.

Offiah A, Alman B, Cornier AS, Giampietro PF, Tassy O, Wade A, Turnpenny PD; ICVAS (International Consortium for Vertebral Anomalies and Scoliosis).

Am J Med Genet A. 2010 Jun;152A(6):1357-71. doi: 10.1002/ajmg.a.33361.

PMID:
20503308
37.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Wakeling EL, Mathew V, Madden J, Davies JH, Temple IK.

Eur J Hum Genet. 2010 Jun;18(6):648-55. doi: 10.1038/ejhg.2009.246. Epub 2010 Jan 27.

38.

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL.

Eur J Hum Genet. 2010 Jun;18(6):674-9. doi: 10.1038/ejhg.2009.241. Epub 2010 Jan 20.

39.

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).

Turner JJ, Christie PT, Pearce SH, Turnpenny PD, Thakker RV.

Hum Mutat. 2010 Jan;31(1):E1089-101. doi: 10.1002/humu.21170.

PMID:
19953642
40.

Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.

Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD.

Ann N Y Acad Sci. 2009 Jan;1151:38-67. doi: 10.1111/j.1749-6632.2008.03452.x. Review.

PMID:
19154516
41.

Molecular diagnosis of vertebral segmentation disorders in humans.

Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD.

Expert Opin Med Diagn. 2008 Oct;2(10):1107-21. doi: 10.1517/17530059.2.10.1107.

PMID:
23496422
42.

Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.

Croft MS, Turnpenny PD.

Clin Dysmorphol. 2008 Jul;17(3):189-91. doi: 10.1097/MCD.0b013e3282f4a984. No abstract available.

PMID:
18541966
43.

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O.

Am J Hum Genet. 2008 Jun;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. Epub 2008 May 15.

44.

Defective somitogenesis and abnormal vertebral segmentation in man.

Turnpenny PD.

Adv Exp Med Biol. 2008;638:164-89. Review.

PMID:
21038776
45.

Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.

Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD.

Clin Dysmorphol. 2007 Oct;16(4):241-6.

PMID:
17786115
46.

Hereditary sacrococcygeal teratoma--not the same as its sporadic counterpart!

Gopal M, Turnpenny PD, Spicer R.

Eur J Pediatr Surg. 2007 Jun;17(3):214-6.

PMID:
17638164
47.

Disruption of the somitic molecular clock causes abnormal vertebral segmentation.

Sparrow DB, Chapman G, Turnpenny PD, Dunwoodie SL.

Birth Defects Res C Embryo Today. 2007 Jun;81(2):93-110. Review.

PMID:
17600782
48.

A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance.

Pallotta R, Saponari A, Domizio S, Amato A, Lelli-Chiesa P, Turnpenny PD.

Clin Dysmorphol. 2007 Jul;16(3):157-61.

PMID:
17551328
49.

Infantile high myopia in Bohring-Opitz syndrome.

Simpson AR, Gibbon CE, Quinn AG, Turnpenny PD.

J AAPOS. 2007 Oct;11(5):524-5. Epub 2007 May 10.

PMID:
17498985
50.

Abnormal vertebral segmentation and the notch signaling pathway in man.

Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquié O, Kusumi K, Dunwoodie S.

Dev Dyn. 2007 Jun;236(6):1456-74. Review.

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