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Items: 1 to 20 of 104

1.

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Belet S, Fieremans N, Yuan X, Van Esch H, Verbeeck J, Ye Z, Cheng L, Brodsky BR, Hu H, Kalscheuer VM, Brodsky RA, Froyen G.

Hum Mutat. 2014 Mar;35(3):350-5. doi: 10.1002/humu.22498. Epub 2014 Jan 13.

PMID:
24357517
2.

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG.

Am J Hum Genet. 2012 Feb 10;90(2):295-300. doi: 10.1016/j.ajhg.2011.11.031. Epub 2012 Feb 2.

3.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM.

Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20.

4.

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A.

Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6.

PMID:
26545172
5.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM.

Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Review.

PMID:
24259184
6.

The genotypic and phenotypic spectrum of PIGA deficiency.

Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD.

Orphanet J Rare Dis. 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8.

7.

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R.

Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008.

8.

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.

Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4.

PMID:
24706016
9.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D.

Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011.

10.

A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.

Kim YO, Yang JH, Park C, Kim SK, Kim MK, Shin MG, Woo YJ.

Brain Dev. 2016 Sep;38(8):750-4. doi: 10.1016/j.braindev.2016.02.008. Epub 2016 Feb 26.

PMID:
26923721
11.

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
12.

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid BM, Bryceson YT, Nordenskjöld M, Nordgren A.

J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1.

PMID:
23636107
13.

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.

JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731.

PMID:
24993872
14.

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

Ware RE, Rosse WF, Howard TA.

Blood. 1994 May 1;83(9):2418-22.

16.

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J.

Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16.

PMID:
24039113
17.

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Strobl-Wildemann G, Kalscheuer VM, Hu H, Wrogemann K, Ropers HH, Tzschach A.

Am J Med Genet A. 2011 Dec;155A(12):3067-70. doi: 10.1002/ajmg.a.34291. Epub 2011 Oct 14.

PMID:
22002931
18.

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.

19.

Glycophosphatidylinositol-anchored protein deficiency as a marker of mutator phenotypes in cancer.

Chen R, Eshleman JR, Brodsky RA, Medof ME.

Cancer Res. 2001 Jan 15;61(2):654-8.

20.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK.

J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.

PMID:
22889856

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