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Items: 1 to 20 of 87

1.

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM.

Am J Med Genet A. 2013 Jun;161A(6):1207-13. doi: 10.1002/ajmg.a.35850. Epub 2013 Apr 30.

PMID:
23633300
2.

Clinical characterization of the HOXA1 syndrome BSAS variant.

Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC.

Neurology. 2007 Sep 18;69(12):1245-53.

3.

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.

Platzer K, Hüning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ.

Am J Med Genet A. 2014 Aug;164A(8):1976-80. doi: 10.1002/ajmg.a.36592. Epub 2014 May 5. Review.

PMID:
24798461
4.

Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies.

Bradshaw CB, Davis RL, Shrimpton AE, Holohan PD, Rea CB, Fieglin D, Kent P, Collins GH.

Arch Neurol. 2001 Sep;58(9):1429-34.

PMID:
11559315
5.

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

Salih MA, Abu-Amero KK, Alrasheed S, Alorainy IA, Liu L, McGrath JA, Van Maldergem L, Al-Faky YH, AlSuhaibani AH, Oystreck DT, Bosley TM.

BMC Med Genet. 2011 Feb 24;12:31. doi: 10.1186/1471-2350-12-31.

6.

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.

Kambouris M, Bohlega S, Al-Tahan A, Meyer BF.

Am J Hum Genet. 2000 Feb;66(2):445-52.

7.

T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.

Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, St George-Hyslop P, Westaway D, Rogaeva E.

Arch Neurol. 2006 Oct;63(10):1483-5.

PMID:
17030667
8.

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 Aug 26.

9.

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.

Eur J Med Genet. 2014 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29.

PMID:
25078763
10.

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC.

Am J Med Genet A. 2015 Nov;167A(11):2508-15. doi: 10.1002/ajmg.a.37248. Epub 2015 Jul 20.

PMID:
26192890
11.

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG.

Am J Hum Genet. 2014 Dec 4;95(6):721-8. doi: 10.1016/j.ajhg.2014.10.016.

12.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH.

Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

PMID:
21937992
13.

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H.

Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19.

14.

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.

15.

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J.

Am J Hum Genet. 2004 Dec;75(6):1079-93. Epub 2004 Oct 18.

16.

Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.

Le Pichon JB, Yu S, Kibiryeva N, Graf WD, Bittel DC.

Eur J Hum Genet. 2013 Oct;21(10):1093-9. doi: 10.1038/ejhg.2013.1. Epub 2013 Jan 30.

17.

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.

Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T.

Mol Vis. 2013 Nov 24;19:2393-406. eCollection 2013 Nov 24.

18.

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
19.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium..

Brain. 2008 Mar;131(Pt 3):772-84. Epub 2007 Dec 13.

PMID:
18079167
20.

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

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