Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 37

1.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM.

Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.

PMID:
31031012
2.

Refining the phenotype associated with biallelic DNAJC21 mutations.

D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF.

Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7.

PMID:
29700810
3.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.

PMID:
29599419
4.

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M.

Am J Med Genet A. 2018 Apr;176(4):985-991. doi: 10.1002/ajmg.a.38628. Epub 2018 Feb 12.

PMID:
29430868
5.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL.

Genet Med. 2018 Jul;20(7):745-753. doi: 10.1038/gim.2017.173. Epub 2017 Oct 26.

PMID:
29261186
6.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

7.

Comparative study of root resorption of maxillary incisors in patients treated with lingual and buccal orthodontics.

Nassif CE, Cotrim-Ferreira A, Conti ACCF, Valarelli DP, de Almeida Cardoso M, de Almeida-Pedrin RR.

Angle Orthod. 2017 Nov;87(6):795-800. doi: 10.2319/041117-247.1. Epub 2017 Jul 24.

PMID:
28737425
8.

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL.

Am J Hum Genet. 2017 May 4;100(5):824-830. doi: 10.1016/j.ajhg.2017.03.009. Epub 2017 Apr 20.

9.

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

Mahmud AA, Nahid NA, Nassif C, Sayeed MS, Ahmed MU, Parveen M, Khalil MI, Islam MM, Nahar Z, Rypens F, Hamdan FF, Rouleau GA, Hasnat A, Michaud JL.

Clin Genet. 2017 Mar;91(3):470-475. doi: 10.1111/cge.12850. Epub 2016 Sep 16.

PMID:
27607563
10.

PAROTID TUMORS: IS SURGERY ALWAYS THE ONLY WAY?

Farah C, Ghorra C, Nassif C, Tabchy B, Haddad A.

J Med Liban. 2015 Oct-Dec;63(4):179-84.

PMID:
26821399
11.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.

Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.

12.

Tracheotomy in children: A series of 57 consecutive cases.

Nassif C, Zielinski M, Francois M, van den Abbeele T.

Eur Ann Otorhinolaryngol Head Neck Dis. 2015 Dec;132(6):321-5. doi: 10.1016/j.anorl.2015.08.035. Epub 2015 Sep 26.

13.

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL.

Clin Genet. 2015 Jul;88(1):e1-4. doi: 10.1111/cge.12605. Epub 2015 May 28.

PMID:
25930971
14.

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL.

J Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Epub 2015 Feb 3.

PMID:
25650066
15.

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

Brue T, Quentien MH, Khetchoumian K, Bensa M, Capo-Chichi JM, Delemer B, Balsalobre A, Nassif C, Papadimitriou DT, Pagnier A, Hasselmann C, Patry L, Schwartzentruber J, Souchon PF, Takayasu S, Enjalbert A, Van Vliet G, Majewski J, Drouin J, Samuels ME.

BMC Med Genet. 2014 Dec 19;15:139. doi: 10.1186/s12881-014-0139-9.

16.

De novo mutations in moderate or severe intellectual disability.

Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL.

PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct.

17.

The effect of double--blind carbohydrate ingestion during 60 km of self-paced exercise in warm ambient conditions.

Nassif C, Gomes AR, Peixoto GH, Chagas MH, Soares DD, Silami-Garcia E, Drinkwater EJ, Cannon J, Marino FE.

PLoS One. 2014 Aug 11;9(8):e104710. doi: 10.1371/journal.pone.0104710. eCollection 2014.

18.

Rhinoliths: an unusual diagnosis of nasal obstruction.

El Hage RG, Nassif C, Rassi SJ.

J Med Liban. 2014 Apr-Jun;62(2):119-22.

PMID:
25011376
19.

Videolaryngoscopy for teaching and supervising rigid bronchoscopy in paediatric patients.

Richa F, Nassif C, Rassi S.

Acta Otorhinolaryngol Ital. 2014 Apr;34(2):144-5. No abstract available.

20.

[Acquired pediatric cholesteatoma: predictive factors of recurrence. A retrospective study of 11 years].

Farah C, Rouhayem Z, Nassif C, Rassi S.

J Med Liban. 2014 Jan-Mar;62(1):7-13. French.

PMID:
24684120
21.

T4a laryngeal cancer survival: retrospective institutional analysis and systematic review.

Francis E, Matar N, Khoueir N, Nassif C, Farah C, Haddad A.

Laryngoscope. 2014 Jul;124(7):1618-23. doi: 10.1002/lary.24557. Epub 2014 Jan 24. Review.

PMID:
24338374
22.

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.

Chouery E, Guissart C, Mégarbané H, Aral B, Nassif C, Thauvin-Robinet C, Faivre L, Mégarbané A.

Eur J Med Genet. 2013 Dec;56(12):674-7. doi: 10.1016/j.ejmg.2013.09.012. Epub 2013 Oct 4. Review.

PMID:
24095818
23.

The cleavage of HuR interferes with its transportin-2-mediated nuclear import and promotes muscle fiber formation.

Beauchamp P, Nassif C, Hillock S, van der Giessen K, von Roretz C, Jasmin BJ, Gallouzi IE.

Cell Death Differ. 2010 Oct;17(10):1588-99. doi: 10.1038/cdd.2010.34. Epub 2010 Apr 9.

24.

Logotherapy for clinical practice.

Schulenberg SE, Hutzell RR, Nassif C, Rogina JM.

Psychotherapy (Chic). 2008 Dec;45(4):447-63. doi: 10.1037/a0014331.

PMID:
22122533
25.

Functional divergence between co-chaperones of Hsc70.

Tzankov S, Wong MJ, Shi K, Nassif C, Young JC.

J Biol Chem. 2008 Oct 3;283(40):27100-9. doi: 10.1074/jbc.M803923200. Epub 2008 Aug 6.

26.

SIRT1 negatively regulates HDAC1-dependent transcriptional repression by the RBP1 family of proteins.

Binda O, Nassif C, Branton PE.

Oncogene. 2008 May 29;27(24):3384-92. doi: 10.1038/sj.onc.1211014. Epub 2008 Jan 14.

PMID:
18193082
27.

Double blind carbohydrate ingestion does not improve exercise duration in warm humid conditions.

Nassif C, Ferreira AP, Gomes AR, Silva Lde M, Garcia ES, Marino FE.

J Sci Med Sport. 2008 Jan;11(1):72-9. Epub 2007 Nov 26.

PMID:
18023253
28.

Splenopancreatic field abnormality is not unique to trisomy 13.

Peres LC, Barbosa GH, Careta RS, Nassif CM, de Pina-Neto JM, Giuliani LR, Martinhago CD, Gomy I.

Pediatr Dev Pathol. 2004 Jan-Feb;7(1):91-4.

PMID:
15255041
29.

Patent opportunities in bioinformatics.

Rzucidlo EC, Nassif CL.

Drug Discov Today. 2002 Nov 1;7(21):1081-2. No abstract available.

PMID:
12546837
30.

Early development of the Drosophila brain: V. Pattern of postembryonic neuronal lineages expressing DE-cadherin.

Dumstrei K, Wang F, Nassif C, Hartenstein V.

J Comp Neurol. 2003 Jan 20;455(4):451-62.

PMID:
12508319
31.

Early development of the Drosophila brain: III. The pattern of neuropile founder tracts during the larval period.

Nassif C, Noveen A, Hartenstein V.

J Comp Neurol. 2003 Jan 20;455(4):417-34.

PMID:
12508317
32.

Embryonic development of the Drosophila brain. II. Pattern of glial cells.

Hartenstein V, Nassif C, Lekven A.

J Comp Neurol. 1998 Dec 7;402(1):32-47.

PMID:
9831044
33.

Embryonic development of the Drosophila brain. I. Pattern of pioneer tracts.

Nassif C, Noveen A, Hartenstein V.

J Comp Neurol. 1998 Dec 7;402(1):10-31.

PMID:
9831043
34.

EGFR signaling is required for the differentiation and maintenance of neural progenitors along the dorsal midline of the Drosophila embryonic head.

Dumstrei K, Nassif C, Abboud G, Aryai A, Aryai A, Hartenstein V.

Development. 1998 Sep;125(17):3417-26.

35.

The role of morphogenetic cell death during Drosophila embryonic head development.

Nassif C, Daniel A, Lengyel JA, Hartenstein V.

Dev Biol. 1998 May 15;197(2):170-86.

36.

Early neurogenesis of the Drosophila brain.

Younossi-Hartenstein A, Nassif C, Green P, Hartenstein V.

J Comp Neurol. 1996 Jul 1;370(3):313-29.

PMID:
8799858
37.

Comparative effects of antacids, enteric coating, and bile salts on the efficacy of oral pancreatic enzyme therapy in cystic fibrosis.

Nassif EG, Younoszai MK, Weinberger MM, Nassif CM.

J Pediatr. 1981 Feb;98(2):320-3. No abstract available.

PMID:
6906363

Supplemental Content

Loading ...
Support Center