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Items: 1 to 20 of 81

1.

Novel genetic findings in an extended family pedigree with sleepwalking.

Licis AK, Desruisseau DM, Yamada KA, Duntley SP, Gurnett CA.

Neurology. 2011 Jan 4;76(1):49-52. doi: 10.1212/WNL.0b013e318203e964.

2.

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.

Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG.

J Med Genet. 2012 Apr;49(4):270-6. doi: 10.1136/jmedgenet-2012-100826.

3.

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Bisulli F, Naldi I, Baldassari S, Magini P, Licchetta L, Castegnaro G, Fabbri M, Stipa C, Ferrari S, Seri M, Gonçalves Silva GE, Tinuper P, Pippucci T.

Epilepsia. 2014 Jun;55(6):841-8. doi: 10.1111/epi.12560. Epub 2014 Mar 1.

4.

Hereditary factors in sleepwalking and night terrors.

Kales A, Soldatos CR, Bixler EO, Ladda RL, Charney DS, Weber G, Schweitzer PK.

Br J Psychiatry. 1980 Aug;137:111-8.

PMID:
7426840
5.

Chromosome 2p14 is linked to susceptibility to leprosy.

Yang Q, Liu H, Low HQ, Wang H, Yu Y, Fu X, Yu G, Chen M, Yan X, Chen S, Huang W, Liu J, Zhang F.

PLoS One. 2012;7(1):e29747. doi: 10.1371/journal.pone.0029747. Epub 2012 Jan 6.

6.

Mapping a new familial thyroid epithelial neoplasia susceptibility locus to chromosome 8p23.1-p22 by high-density single-nucleotide polymorphism genome-wide linkage analysis.

Cavaco BM, Batista PF, Sobrinho LG, Leite V.

J Clin Endocrinol Metab. 2008 Nov;93(11):4426-30. doi: 10.1210/jc.2008-0449. Epub 2008 Sep 2.

PMID:
18765515
8.

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N.

Lancet Neurol. 2015 Mar;14(3):274-82. doi: 10.1016/S1474-4422(14)70266-2. Epub 2015 Feb 4.

PMID:
25662902
9.

Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families.

Arason A, Gunnarsson H, Johannesdottir G, Jonasson K, Bendahl PO, Gillanders EM, Agnarsson BA, Jönsson G, Pylkäs K, Mustonen A, Heikkinen T, Aittomäki K, Blomqvist C, Melin B, Johannsson OT, Møller P, Winqvist R, Nevanlinna H, Borg A, Barkardottir RB.

Breast Cancer Res. 2010;12(4):R50. doi: 10.1186/bcr2608. Epub 2010 Jul 16.

10.

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

Luty AA, Kwok JB, Thompson EM, Blumbergs P, Brooks WS, Loy CT, Dobson-Stone C, Panegyres PK, Hecker J, Nicholson GA, Halliday GM, Schofield PR.

BMC Neurol. 2008 Aug 29;8:32. doi: 10.1186/1471-2377-8-32.

11.

Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33.

Raza MH, Riazuddin S, Drayna D.

Hum Genet. 2010 Oct;128(4):461-3. doi: 10.1007/s00439-010-0871-y. Epub 2010 Aug 13.

12.

Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma.

Devoto M, Specchia C, Laudenslager M, Longo L, Hakonarson H, Maris J, Mossé Y.

Hum Hered. 2011;71(2):135-9. doi: 10.1159/000324843. Epub 2011 Jul 6.

13.

Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.

Tang YG, Rabinowitz YS, Taylor KD, Li X, Hu M, Picornell Y, Yang H.

Genet Med. 2005 Jul-Aug;7(6):397-405.

PMID:
16024971
14.

Genome-wide linkage analysis of Swedish families to identify putative susceptibility loci for cutaneous malignant melanoma.

Höiom V, Tuominen R, Hansson J.

Genes Chromosomes Cancer. 2011 Dec;50(12):1076-84. doi: 10.1002/gcc.20931. Epub 2011 Sep 7.

PMID:
21901783
15.

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

Dantas VG, Freitas EL, Della-Rosa VA, Lezirovitz K, de Moraes AM, Ramos SB, Oiticica J, Alves LU, Pearson PL, Rosenberg C, Mingroni-Netto RC.

Int J Audiol. 2015;54(9):593-8. doi: 10.3109/14992027.2015.1030511. Epub 2015 Apr 30.

PMID:
25926005
16.

Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.

Xu J, Zheng SL, Carpten JD, Nupponen NN, Robbins CM, Mestre J, Moses TY, Faith DA, Kelly BD, Isaacs SD, Wiley KE, Ewing CM, Bujnovszky P, Chang B, Bailey-Wilson J, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB.

Am J Hum Genet. 2001 Apr;68(4):901-11. Epub 2001 Mar 14.

17.

Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q.

Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, Berselli CB, Trzupek K, Weleber RG, Ott J, Wirtz MK, Acott TS.

Arch Ophthalmol. 1998 Aug;116(8):1082-8.

PMID:
9715689
18.

Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.

Klein KM, Bromhead CJ, Smith KR, O'Callaghan CJ, Corcoran SJ, Heron SE, Iona X, Hodgson BL, McMahon JM, Lawrence KM, Scheffer IE, Dibbens LM, Bahlo M, Berkovic SF.

Neurology. 2013 Apr 16;80(16):1485-93. doi: 10.1212/WNL.0b013e31828cfad0.

PMID:
23589636
19.

Families with sleepwalking.

Cao M, Guilleminault C.

Sleep Med. 2010 Aug;11(7):726-34. doi: 10.1016/j.sleep.2010.01.011. Epub 2010 Jul 2.

PMID:
20598633
20.

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