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Items: 37

1.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Wassink-Ruiter JSK, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.

Genet Med. 2019 Oct 3. doi: 10.1038/s41436-019-0657-0. [Epub ahead of print]

PMID:
31578471
2.

Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome.

Alkhunaizi E, Koenekoop RK, Saint-Martin C, Russell L.

Am J Med Genet A. 2019 Nov;179(11):2233-2236. doi: 10.1002/ajmg.a.61299. Epub 2019 Aug 7.

PMID:
31390148
3.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M.

Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28.

PMID:
30924036
4.

Diagnostic Yield of Intellectual Disability Gene Panels.

Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M.

Pediatr Neurol. 2019 Mar;92:32-36. doi: 10.1016/j.pediatrneurol.2018.11.005. Epub 2018 Nov 22.

PMID:
30581057
5.

Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Huusko JM, Karjalainen MK, Graham BE, Zhang G, Farrow EG, Miller NA, Jacobsson B, Eidem HR, Murray JC, Bedell B, Breheny P, Brown NW, Bødker FL, Litterman NK, Jiang PP, Russell L, Hinds DA, Hu Y; 23andMe Research Team, Rokas A, Teramo K, Christensen K, Williams SM, Rämet M, Kingsmore SF, Ryckman KK, Hallman M, Muglia LJ.

PLoS Genet. 2018 Sep 13;14(9):e1007673. doi: 10.1371/journal.pgen.1007673. eCollection 2018 Sep.

6.

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Huusko JM, Karjalainen MK, Graham BE, Zhang G, Farrow EG, Miller NA, Jacobsson B, Eidem HR, Murray JC, Bedell B, Breheny P, Brown NW, Bødker FL, Litterman NK, Jiang PP, Russell L, Hinds DA, Hu Y; 23andMe Research Team, Rokas A, Teramo K, Christensen K, Williams SM, Rämet M, Kingsmore SF, Ryckman KK, Hallman M, Muglia LJ.

PLoS Genet. 2018 Jul 12;14(7):e1007394. doi: 10.1371/journal.pgen.1007394. eCollection 2018 Jul. Erratum in: PLoS Genet. 2018 Sep 13;14(9):e1007673.

7.

Encountering the Unexpected: Revelations of Trust, Vulnerability, and Embodied Ways of Knowing.

Russell LD.

Health Commun. 2019 Oct;34(11):1380-1382. doi: 10.1080/10410236.2018.1481493. Epub 2018 May 31.

PMID:
29851517
8.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.

9.

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.

Zhang G, Feenstra B, Bacelis J, Liu X, Muglia LM, Juodakis J, Miller DE, Litterman N, Jiang PP, Russell L, Hinds DA, Hu Y, Weirauch MT, Chen X, Chavan AR, Wagner GP, Pavličev M, Nnamani MC, Maziarz J, Karjalainen MK, Rämet M, Sengpiel V, Geller F, Boyd HA, Palotie A, Momany A, Bedell B, Ryckman KK, Huusko JM, Forney CR, Kottyan LC, Hallman M, Teramo K, Nohr EA, Davey Smith G, Melbye M, Jacobsson B, Muglia LJ.

N Engl J Med. 2017 Sep 21;377(12):1156-1167. doi: 10.1056/NEJMoa1612665. Epub 2017 Sep 6.

10.

Opinion: Why we need a centralized repository for isotopic data.

Pauli JN, Newsome SD, Cook JA, Harrod C, Steffan SA, Baker CJ, Ben-David M, Bloom D, Bowen GJ, Cerling TE, Cicero C, Cook C, Dohm M, Dharampal PS, Graves G, Gropp R, Hobson KA, Jordan C, MacFadden B, Pilaar Birch S, Poelen J, Ratnasingham S, Russell L, Stricker CA, Uhen MD, Yarnes CT, Hayden B.

Proc Natl Acad Sci U S A. 2017 Mar 21;114(12):2997-3001. doi: 10.1073/pnas.1701742114. No abstract available.

11.

The importance of digitized biocollections as a source of trait data and a new VertNet resource.

Guralnick RP, Zermoglio PF, Wieczorek J, LaFrance R, Bloom D, Russell L.

Database (Oxford). 2016 Dec 26;2016. pii: baw158. doi: 10.1093/database/baw158. Print 2016.

12.

HSP90 inhibitors in the context of heat shock and the unfolded protein response: effects on a primary canine pulmonary adenocarcinoma cell line.

Graner AN, Hellwinkel JE, Lencioni AM, Madsen HJ, Harland TA, Marchando P, Nguyen GJ, Wang M, Russell LM, Bemis LT, Anchordoquy TJ, Graner MW.

Int J Hyperthermia. 2017 May;33(3):303-317. doi: 10.1080/02656736.2016.1256503. Epub 2016 Dec 20.

13.

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.

Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J, Hong K, Majewski J, Harvey EJ, Russell L, Chalk C, Rosenblatt DS, Nelson MT, Séguin C.

J Med Genet. 2016 Oct;53(10):705-9. doi: 10.1136/jmedgenet-2016-103829. Epub 2016 Jun 21.

14.

Developmental validation of STRmix™, expert software for the interpretation of forensic DNA profiles.

Bright JA, Taylor D, McGovern C, Cooper S, Russell L, Abarno D, Buckleton J.

Forensic Sci Int Genet. 2016 Jul;23:226-239. doi: 10.1016/j.fsigen.2016.05.007. Epub 2016 May 12.

PMID:
27235797
15.

"That's What 'College Experience' is": Exploring Cultural Narratives and Descriptive Norms College Students Construct for Legitimizing Alcohol Use.

Russell LD, Arthur T.

Health Commun. 2016 Aug;31(8):917-25. doi: 10.1080/10410236.2015.1018700. Epub 2015 Dec 23.

PMID:
26698857
16.

High rate of microbleed formation following primary intracerebral hemorrhage.

Mackey J, Wing JJ, Norato G, Sobotka I, Menon RS, Burgess RE, Gibbons MC, Shara NM, Fernandez S, Jayam-Trouth A, Russell L, Edwards DF, Kidwell CS.

Int J Stroke. 2015 Dec;10(8):1187-91. doi: 10.1111/ijs.12607. Epub 2015 Aug 26.

17.

Photoperiod regulates lean mass accretion, but not adiposity, in growing F344 rats fed a high fat diet.

Ross AW, Russell L, Helfer G, Thomson LM, Dalby MJ, Morgan PJ.

PLoS One. 2015 Mar 19;10(3):e0119763. doi: 10.1371/journal.pone.0119763. eCollection 2015.

18.

The GBIF integrated publishing toolkit: facilitating the efficient publishing of biodiversity data on the internet.

Robertson T, Döring M, Guralnick R, Bloom D, Wieczorek J, Braak K, Otegui J, Russell L, Desmet P.

PLoS One. 2014 Aug 6;9(8):e102623. doi: 10.1371/journal.pone.0102623. eCollection 2014.

19.

Spectroscopy, manipulation and trapping of neutral atoms, molecules, and other particles using optical nanofibers: a review.

Morrissey MJ, Deasy K, Frawley M, Kumar R, Prel E, Russell L, Truong VG, Chormaic SN.

Sensors (Basel). 2013 Aug 13;13(8):10449-81. doi: 10.3390/s130810449. Review.

20.

Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report.

Freire G, Russell L, Oskoui M.

J Pediatr Genet. 2013 Jun;2(2):103-7. doi: 10.3233/PGE-13055.

21.

Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.

Lévesque S, Lambert M, Karalis A, Melancon S, Russell L, Braverman N.

JIMD Rep. 2012;2:97-102. doi: 10.1007/8904_2011_54. Epub 2011 Sep 6.

22.

From documents to datasets: A MediaWiki-based method of annotating and extracting species observations in century-old field notebooks.

Thomer A, Vaidya G, Guralnick R, Bloom D, Russell L.

Zookeys. 2012;(209):235-53. doi: 10.3897/zookeys.209.3247. Epub 2012 Jul 20.

23.

Effects of second language usage on genetic counseling training and supervision.

Vanneste R, Chiu SM, Russell L, Fitzpatrick J.

J Genet Couns. 2013 Feb;22(1):58-75. doi: 10.1007/s10897-012-9509-7. Epub 2012 May 31. Erratum in: J Genet Couns. 2013 Apr;22(2):289.

PMID:
22648537
24.

Public discourses about teenage pregnancy: disruption, restoration, and ideology.

Bute JJ, Russell LD.

Health Commun. 2012;27(7):712-22. doi: 10.1080/10410236.2011.636479. Epub 2012 Jan 17.

PMID:
22250857
25.

Photoperiod regulates vitamin A and Wnt/β-catenin signaling in F344 rats.

Helfer G, Ross AW, Russell L, Thomson LM, Shearer KD, Goodman TH, McCaffery PJ, Morgan PJ.

Endocrinology. 2012 Feb;153(2):815-24. doi: 10.1210/en.2011-1792. Epub 2011 Dec 30.

PMID:
22210746
26.

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.

Der Kaloustian VM, Russell L, Aradhya S, Richard G, Rosenblatt B, Melançon S.

Am J Med Genet A. 2011 Oct;155A(10):2538-42.

PMID:
22043489
27.

Thyroid hormone signalling genes are regulated by photoperiod in the hypothalamus of F344 rats.

Ross AW, Helfer G, Russell L, Darras VM, Morgan PJ.

PLoS One. 2011;6(6):e21351. doi: 10.1371/journal.pone.0021351. Epub 2011 Jun 22.

28.

Characteristics of men willing to act as sperm donors in the context of identity-release legislation.

Riggs DW, Russell L.

Hum Reprod. 2011 Jan;26(1):266-72. doi: 10.1093/humrep/deq314. Epub 2010 Nov 18.

PMID:
21088014
29.

Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.

Shin DS, Min SH, Russell L, Zhao R, Fiser A, Goldman ID.

Blood. 2010 Dec 9;116(24):5162-9. doi: 10.1182/blood-2010-06-291237. Epub 2010 Aug 30.

30.

Storying unspoken beginnings and endings of recovery.

Russell LD.

Health Commun. 2010 Jan;25(1):94-6. doi: 10.1080/10410230903474043. No abstract available.

PMID:
20390675
31.

FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome.

d'Hennezel E, Ben-Shoshan M, Ochs HD, Torgerson TR, Russell LJ, Lejtenyi C, Noya FJ, Jabado N, Mazer B, Piccirillo CA.

N Engl J Med. 2009 Oct 22;361(17):1710-3. doi: 10.1056/NEJMc0907093. No abstract available.

PMID:
19846862
32.

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.

Griffith AJ, Yang Y, Pryor SP, Park HJ, Jabs EW, Nadol JB Jr, Russell LJ, Wasserman DI, Richard G, Adams JC, Merchant SN.

Laryngoscope. 2006 Aug;116(8):1404-8.

33.

Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers.

Lalovic A, Merkens L, Russell L, Arsenault-Lapierre G, Nowaczyk MJ, Porter FD, Steiner RD, Turecki G.

Am J Psychiatry. 2004 Nov;161(11):2123-6.

PMID:
15514417
34.

Auditory neuropathy in siblings with Waardenburg's syndrome.

Jutras B, Russell LJ, Hurteau AM, Chapdelaine M.

Int J Pediatr Otorhinolaryngol. 2003 Oct;67(10):1133-42.

PMID:
14550970
35.

Incomplete tracheal duplication associated with severe unilateral lung hypoplasia.

Haben CM, Nguyen VH, Russell L, Berry MA, Manoukian JJ.

J Laryngol Otol. 2003 Mar;117(3):215-8.

PMID:
12648381
36.

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L.

Am J Hum Genet. 2002 May;70(5):1341-8. Epub 2002 Mar 22.

37.

Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome.

Szymko-Bennett YM, Russell LJ, Bale SJ, Griffith AJ.

Laryngoscope. 2002 Feb;112(2):272-80.

PMID:
11889383

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