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Items: 1 to 50 of 260

1.

Communication between the transverse cervical nerve (C2,3) and marginal mandibular branch of the facial nerve: a cadaveric and clinical study.

Brennan PA, Mak J, Massetti K, Parry DA.

Br J Oral Maxillofac Surg. 2019 Feb 22. pii: S0266-4356(19)30034-8. doi: 10.1016/j.bjoms.2018.10.289. [Epub ahead of print]

PMID:
30803734
2.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

PMID:
30773277
3.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.

Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.

4.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibáñez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP.

Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26.

PMID:
30478443
5.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

PMID:
30290151
6.

Direct evidence supporting the existence of a helical dislocation in protofilament packing in the intermediate filaments of oxidized trichocyte keratin.

Fraser RDB, Parry DAD.

J Struct Biol. 2018 Dec;204(3):491-497. doi: 10.1016/j.jsb.2018.09.007. Epub 2018 Sep 21.

PMID:
30248462
7.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

8.

Sleep: its importance and the effects of deprivation on surgeons and other healthcare professionals.

Parry DA, Oeppen RS, Amin MSA, Brennan PA.

Br J Oral Maxillofac Surg. 2018 Oct;56(8):663-666. doi: 10.1016/j.bjoms.2018.08.001. Epub 2018 Aug 30. Review.

PMID:
30173962
9.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

10.

Trichocyte Keratin-Associated Proteins (KAPs).

Fraser RDB, Parry DAD.

Adv Exp Med Biol. 2018;1054:71-86. doi: 10.1007/978-981-10-8195-8_7.

PMID:
29797269
11.

Structural Hierarchy of Trichocyte Keratin Intermediate Filaments.

Fraser RDB, Parry DAD.

Adv Exp Med Biol. 2018;1054:57-70. doi: 10.1007/978-981-10-8195-8_6.

PMID:
29797268
12.

Could exercise improve mental health and cognitive skills for surgeons and other healthcare professionals?

Parry DA, Oeppen RS, Amin MSA, Brennan PA.

Br J Oral Maxillofac Surg. 2018 Jun;56(5):367-370. doi: 10.1016/j.bjoms.2018.03.005. Epub 2018 Apr 9. Review.

PMID:
29650472
13.

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ.

Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15.

14.

Can dietary supplements improve a clinician's well-being and health?

Parry DA, Oeppen RS, Amin M, Brennan PA.

Br J Oral Maxillofac Surg. 2018 Feb;56(2):85-89. doi: 10.1016/j.bjoms.2017.12.002. Epub 2017 Dec 15. Review.

PMID:
29254875
15.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020.

16.

Maturation-related adaptations in running speed in response to sprint training in youth soccer players.

Moran J, Parry DA, Lewis I, Collison J, Rumpf MC, Sandercock GRH.

J Sci Med Sport. 2018 May;21(5):538-542. doi: 10.1016/j.jsams.2017.09.012. Epub 2017 Sep 21.

PMID:
28964690
17.

Intermediate filament structure in fully differentiated (oxidised) trichocyte keratin.

Fraser RDB, Parry DAD.

J Struct Biol. 2017 Oct;200(1):45-53. doi: 10.1016/j.jsb.2017.09.003. Epub 2017 Sep 8.

PMID:
28890162
18.
19.

Age-Related Variation in Male Youth Athletes' Countermovement Jump After Plyometric Training: A Meta-Analysis of Controlled Trials.

Moran JJ, Sandercock GR, Ramírez-Campillo R, Meylan CM, Collison JA, Parry DA.

J Strength Cond Res. 2017 Feb;31(2):552-565. doi: 10.1519/JSC.0000000000001444. Review.

PMID:
28129282
20.

Maturation-Related Differences in Adaptations to Resistance Training in Young Male Swimmers.

Moran J, Sandercock GRH, Ramírez-Campillo R, Wooller JJ, Logothetis S, Schoenmakers PPJM, Parry DA.

J Strength Cond Res. 2018 Jan;32(1):139-149. doi: 10.1519/JSC.0000000000001780.

PMID:
28118309
21.

Filamentous Structure of Hard β-Keratins in the Epidermal Appendages of Birds and Reptiles.

Fraser RD, Parry DA.

Subcell Biochem. 2017;82:231-252. doi: 10.1007/978-3-319-49674-0_8. Review.

PMID:
28101864
22.

Structural Transition of Trichocyte Keratin Intermediate Filaments During Development in the Hair Follicle.

Fraser RD, Parry DA.

Subcell Biochem. 2017;82:131-149. doi: 10.1007/978-3-319-49674-0_5. Review.

PMID:
28101861
23.

Fibrous Protein Structures: Hierarchy, History and Heroes.

Squire JM, Parry DA.

Subcell Biochem. 2017;82:1-33. doi: 10.1007/978-3-319-49674-0_1. Review.

PMID:
28101857
24.

Assembly studies of six intestinal intermediate filament (IF) proteins B2, C1, C2, D1, D2, and E1 in the nematode C. elegans.

Karabinos A, Schünemann J, Parry DA.

Cytoskeleton (Hoboken). 2017 Mar;74(3):107-113. doi: 10.1002/cm.21354. Epub 2017 Jan 22.

PMID:
28063204
25.

Maturational and social factors contributing to relative age effects in school sports: Data from the London Youth Games.

Reed KE, Parry DA, Sandercock GRH.

Scand J Med Sci Sports. 2017 Dec;27(12):2070-2079. doi: 10.1111/sms.12815. Epub 2016 Dec 20.

PMID:
28000283
26.

Characterizing the morbid genome of ciliopathies.

Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.

Genome Biol. 2016 Nov 28;17(1):242.

27.

Maturation-Related Effect of Low-Dose Plyometric Training on Performance in Youth Hockey Players.

Moran J, Sandercock GRH, Ramírez-Campillo R, Todd O, Collison J, Parry DA.

Pediatr Exerc Sci. 2017 May;29(2):194-202. doi: 10.1123/pes.2016-0151. Epub 2016 Nov 11.

PMID:
27834619
28.

Variation in Responses to Sprint Training in Male Youth Athletes: A Meta-analysis.

Moran J, Sandercock G, Rumpf MC, Parry DA.

Int J Sports Med. 2017 Jan;38(1):1-11. doi: 10.1055/s-0042-111439. Epub 2016 Oct 28.

PMID:
27793062
29.

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ.

Am J Hum Genet. 2016 Oct 6;99(4):984-990. doi: 10.1016/j.ajhg.2016.08.020. Epub 2016 Sep 29.

30.

A meta-analysis of maturation-related variation in adolescent boy athletes' adaptations to short-term resistance training.

Moran J, Sandercock GR, Ramírez-Campillo R, Meylan C, Collison J, Parry DA.

J Sports Sci. 2017 Jun;35(11):1041-1051. doi: 10.1080/02640414.2016.1209306. Epub 2016 Jul 25. Review.

PMID:
27454545
31.

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashita M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S.

J Allergy Clin Immunol. 2016 Jul;138(1):210-218.e9. doi: 10.1016/j.jaci.2016.03.022. Epub 2016 Apr 21.

32.

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

Masters SL, Lagou V, Jéru I, Baker PJ, Van Eyck L, Parry DA, Lawless D, De Nardo D, Garcia-Perez JE, Dagley LF, Holley CL, Dooley J, Moghaddas F, Pasciuto E, Jeandel PY, Sciot R, Lyras D, Webb AI, Nicholson SE, De Somer L, van Nieuwenhove E, Ruuth-Praz J, Copin B, Cochet E, Medlej-Hashim M, Megarbane A, Schroder K, Savic S, Goris A, Amselem S, Wouters C, Liston A.

Sci Transl Med. 2016 Mar 30;8(332):332ra45. doi: 10.1126/scitranslmed.aaf1471.

33.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.

Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17.

34.

Using Data Mining and Computational Approaches to Study Intermediate Filament Structure and Function.

Parry DA.

Methods Enzymol. 2016;568:255-76. doi: 10.1016/bs.mie.2015.07.011. Epub 2015 Oct 24.

PMID:
26795474
35.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D.

Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25.

36.

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.

Parry DA, Holmes TD, Gamper N, El-Sayed W, Hettiarachchi NT, Ahmed M, Cook GP, Logan CV, Johnson CA, Joss S, Peers C, Prescott K, Savic S, Inglehearn CF, Mighell AJ.

J Allergy Clin Immunol. 2016 Mar;137(3):955-7.e8. doi: 10.1016/j.jaci.2015.08.051. Epub 2015 Nov 10. No abstract available.

37.

The molecular structure of the silk fibers from Hymenoptera aculeata (bees, wasps, ants).

Fraser RDB, Parry DAD.

J Struct Biol. 2015 Dec;192(3):528-538. doi: 10.1016/j.jsb.2015.10.017. Epub 2015 Oct 31.

PMID:
26515761
38.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT.

J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30.

39.

Localisation of keratin K78 in the basal layer and first suprabasal layers of stratified epithelia completes expression catalogue of type II keratins and provides new insights into sequential keratin expression.

Langbein L, Eckhart L, Fischer H, Rogers MA, Praetzel-Wunder S, Parry DA, Kittstein W, Schweizer J.

Cell Tissue Res. 2016 Mar;363(3):735-50. doi: 10.1007/s00441-015-2278-5. Epub 2015 Sep 4.

PMID:
26340985
40.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

41.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, Paula LM, Parry DA, Logan CV, Smith CE, Johnson CA, Inglehearn CF, Mighell AJ.

BMC Med Genet. 2015 Feb 21;16:8. doi: 10.1186/s12881-015-0154-5.

42.

Amino acid sequence homologies in the hard keratins of birds and reptiles, and their implications for molecular structure and physical properties.

Fraser RD, Parry DA.

J Struct Biol. 2014 Dec;188(3):213-24. doi: 10.1016/j.jsb.2014.10.012. Epub 2014 Nov 4.

PMID:
25448888
43.

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M.

PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014.

44.

Athletic Performance and Birth Month: Is the Relative Age Effect More than just Selection Bias?

Sandercock GRH, Ogunleye AA, Parry DA, Cohen DD, Taylor MJD, Voss C.

Int J Sports Med. 2014 Nov;35(12):e6. doi: 10.1055/s-0034-1384592. Epub 2014 Jul 10. No abstract available.

PMID:
25009966
45.

Athletic performance and birth month: is the relative age effect more than just selection bias?

Sandercock GR, Ogunleye AA, Parry DA, Cohen DD, Taylor MJ, Voss C.

Int J Sports Med. 2014 Nov;35(12):1017-23. doi: 10.1055/s-0034-1368725. Epub 2014 Jun 2.

PMID:
24886927
46.

Alpbach special issue.

Parry DA.

J Struct Biol. 2014 Jun;186(3):319. doi: 10.1016/j.jsb.2014.05.004. No abstract available.

PMID:
24875424
47.
48.

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ.

Hum Mol Genet. 2014 Oct 15;23(20):5317-24. doi: 10.1093/hmg/ddu247. Epub 2014 May 23.

49.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KPJ, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J; FORGE Canada Consortium, Boycot KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG.

Nat Genet. 2014 May;46(5):510-515. doi: 10.1038/ng.2948. Epub 2014 Apr 6.

50.

Mutations in TJP2 cause progressive cholestatic liver disease.

Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G; University of Washington Center for Mendelian Genomics, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ.

Nat Genet. 2014 Apr;46(4):326-8. doi: 10.1038/ng.2918. Epub 2014 Mar 9.

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