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Items: 1 to 20 of 126

1.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

2.

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.

Mayo S, Roselló M, Monfort S, Oltra S, Orellana C, Martínez F.

Genet Med. 2015 Aug;17(8):683-4. doi: 10.1038/gim.2015.86. No abstract available.

PMID:
26240977
3.

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

Martinez F, Marín-Reina P, Sanchis-Calvo A, Perez-Aytés A, Oltra S, Roselló M, Mayo S, Monfort S, Pantoja J, Orellana C.

Pediatr Res. 2015 Nov;78(5):533-9. doi: 10.1038/pr.2015.135. Epub 2015 Jul 22.

PMID:
26200704
4.

[Prevention of cot death in maternity hospitals].

Fleurigeon A, Billard E, Monfort S, Brochard M, Angeli F, Éoche D.

Rev Infirm. 2015 Jun-Jul;212:34-5. doi: 10.1016/j.revinf.2015.04.010. French.

PMID:
26146000
5.

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.

Mayo S, Monfort S, Roselló M, Oltra S, Orellana C, Martínez F.

Biomed Res Int. 2015;2015:341986. doi: 10.1155/2015/341986. Epub 2015 May 27.

6.

Social status and helminth infections in female forest guenons (Cercopithecus mitis).

Foerster S, Kithome K, Cords M, Monfort SL.

Am J Phys Anthropol. 2015 Sep;158(1):55-66. doi: 10.1002/ajpa.22764. Epub 2015 Jun 8.

PMID:
26060035
7.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F.

Am J Med Genet A. 2015 Jun;167(6):1342-8. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21.

PMID:
25900314
8.

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

Orellana C, Roselló M, Monfort S, Mayo S, Oltra S, Martínez F.

Am J Med Genet A. 2015 Jul;167(7):1614-20. doi: 10.1002/ajmg.a.37046. Epub 2015 Apr 9.

PMID:
25858326
9.

Association between ball-handling versus defending actions and acute noncontact lower extremity injuries in high school basketball and soccer.

Monfort SM, Comstock RD, Collins CL, Onate JA, Best TM, Chaudhari AM.

Am J Sports Med. 2015 Apr;43(4):802-7. doi: 10.1177/0363546514564541. Epub 2015 Jan 16.

PMID:
25596616
10.

Mean fecal glucocorticoid metabolites are associated with vigilance, whereas immediate cortisol levels better reflect acute anti-predator responses in meerkats.

Voellmy IK, Goncalves IB, Barrette MF, Monfort SL, Manser MB.

Horm Behav. 2014 Nov;66(5):759-65. doi: 10.1016/j.yhbeh.2014.08.008. Epub 2014 Sep 8.

PMID:
25218254
11.

A longitudinal examination of re-employment quality on internalizing symptoms and job-search intentions.

Monfort SS, Howe GW, Nettles CD, Weihs KL.

J Occup Health Psychol. 2015 Jan;20(1):50-61. doi: 10.1037/a0037753. Epub 2014 Aug 25.

12.

Combination of pulsed electric fields, mild heat and essential oils as an alternative to the ultrapasteurization of liquid whole egg.

Espina L, Monfort S, Alvarez I, García-Gonzalo D, Pagán R.

Int J Food Microbiol. 2014 Oct 17;189:119-25. doi: 10.1016/j.ijfoodmicro.2014.08.002. Epub 2014 Aug 9.

PMID:
25146463
13.

"Mayday mayday mayday", the millennium ark is sinking!

Monfort SL.

Adv Exp Med Biol. 2014;753:15-31. doi: 10.1007/978-1-4939-0820-2_2. Review.

PMID:
25091904
14.

Oral and injectable synthetic progestagens effectively manipulate the estrous cycle in the Przewalski's horse (Equus ferus przewalskii).

Collins CW, Monfort SL, Vick MM, Wolfe BA, Weiss RB, Keefer CL, Songsasen N.

Anim Reprod Sci. 2014 Jul;148(1-2):42-52. doi: 10.1016/j.anireprosci.2014.03.018. Epub 2014 Apr 8.

PMID:
24856195
15.

Phenotype profiling of patients with intellectual disability and copy number variations.

Roselló M, Martínez F, Monfort S, Mayo S, Oltra S, Orellana C.

Eur J Paediatr Neurol. 2014 Sep;18(5):558-66. doi: 10.1016/j.ejpn.2014.04.010. Epub 2014 Apr 18.

PMID:
24815074
16.

A contextual approach to experiential avoidance and social anxiety: evidence from an experimental interaction and daily interactions of people with social anxiety disorder.

Kashdan TB, Goodman FR, Machell KA, Kleiman EM, Monfort SS, Ciarrochi J, Nezlek JB.

Emotion. 2014 Aug;14(4):769-81. doi: 10.1037/a0035935. Epub 2014 Apr 21.

17.

Perceived responsiveness during an initial social interaction with a stranger predicts a positive memory bias one week later.

Kleiman EM, Kashdan TB, Monfort SS, Machell KA, Goodman FR.

Cogn Emot. 2015;29(2):332-41. doi: 10.1080/02699931.2014.905458. Epub 2014 Apr 10.

PMID:
24717048
18.

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

Martínez F, Roselló M, Mayo S, Monfort S, Oltra S, Orellana C.

Am J Med Genet A. 2014 Apr;164A(4):918-23. doi: 10.1002/ajmg.a.36371. Epub 2014 Jan 23.

PMID:
24458433
19.

[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].

López-Carrasco A, Monfort S, Roselló M, Oltra S, Mayo S, Martínez F, Orellana C.

Med Clin (Barc). 2014 Jun 16;142(12):531-7. doi: 10.1016/j.medcli.2013.04.034. Epub 2013 Jun 20. Spanish.

PMID:
23790573
20.

Seasonal energetic stress in a tropical forest primate: proximate causes and evolutionary implications.

Foerster S, Cords M, Monfort SL.

PLoS One. 2012;7(11):e50108. doi: 10.1371/journal.pone.0050108. Epub 2012 Nov 28.

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