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Items: 1 to 20 of 103

1.

Intellectual disability associated with a homozygous missense mutation in THOC6.

Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J; FORGE Canada Consortium, Majewski J, Bulman DE, Parboosingh JS, Boycott KM.

Orphanet J Rare Dis. 2013 Apr 26;8:62. doi: 10.1186/1750-1172-8-62.

2.

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM; Care4Rare Canada Consortium.

Clin Genet. 2017 Jan;91(1):92-99. doi: 10.1111/cge.12793. Epub 2016 May 24.

PMID:
27102954
3.

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.

Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.

PLoS One. 2015 Aug 26;10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015.

4.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H.

Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15.

5.

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.

Makrythanasis P, Guipponi M, Santoni FA, Zaki M, Issa MY, Ansar M, Hamamy H, Antonarakis SE.

Hum Genomics. 2016 Jul 16;10(1):26. doi: 10.1186/s40246-016-0082-2.

6.

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S.

J Med Genet. 2015 Feb;52(2):123-7. doi: 10.1136/jmedgenet-2014-102793. Epub 2014 Dec 19.

PMID:
25527630
7.

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.

Isrie M, Zamani Esteki M, Peeters H, Voet T, Van Houdt J, Van Paesschen W, Van Esch H.

Eur J Med Genet. 2015 Apr;58(4):205-10. doi: 10.1016/j.ejmg.2015.02.006. Epub 2015 Feb 24.

PMID:
25724587
8.

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.

Sheereen A, Alaamery M, Bawazeer S, Al Yafee Y, Massadeh S, Eyaid W.

J Med Genet. 2017 Apr;54(4):236-240. doi: 10.1136/jmedgenet-2016-104117. Epub 2017 Jan 31.

9.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L.

Clin Chim Acta. 2017 Jan;464:24-29. doi: 10.1016/j.cca.2016.10.029. Epub 2016 Oct 28.

PMID:
27983999
10.

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS.

Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19.

PMID:
27431290
11.

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Casey J, Jenkinson A, Magee A, Ennis S, Monavari A, Green A, Lynch SA, Crushell E, Hughes J.

Clin Dysmorphol. 2016 Oct;25(4):146-51. doi: 10.1097/MCD.0000000000000134.

PMID:
27295358
12.

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kääriäinen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Järvelä I.

Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49.

13.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM.

Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27.

PMID:
23020937
14.

X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.

Bissar-Tadmouri N, Donahue WL, Al-Gazali L, Nelson SF, Bayrak-Toydemir P, Kantarci S.

Am J Med Genet A. 2014 Jan;164A(1):164-9.

PMID:
24501762
15.

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.

Am J Med Genet A. 2016 Nov;170(11):2927-2933. doi: 10.1002/ajmg.a.37792. Epub 2016 Jun 22.

PMID:
27333055
16.

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F.

Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27.

PMID:
23982343
17.

Diagnostic exome sequencing in persons with severe intellectual disability.

de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.

N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.

18.

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK.

J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7.

19.

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S.

Mol Psychiatry. 2016 Aug;21(8):1125-9. doi: 10.1038/mp.2015.150. Epub 2015 Sep 29.

PMID:
26416544
20.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Erratum in: Eur J Hum Genet. 2015 May;23(5):720.

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