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Items: 1 to 20 of 27

1.

A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

Sakaguchi T, Žigman T, Petković Ramadža D, Omerza L, Pušeljić S, Ereš Hrvaćanin Z, Miyake N, Matsumoto N, Barić I.

Hum Genome Var. 2018 Mar 8;5:18005. doi: 10.1038/hgv.2018.5. eCollection 2018.

2.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM.

Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5.

3.

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.

Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk OS.

Biomed Res Int. 2017;2017:3470234. doi: 10.1155/2017/3470234. Epub 2017 Oct 8.

4.

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

Reynolds KK, Juusola J, Rice GM, Giampietro PF.

Am J Med Genet A. 2017 Oct;173(10):2776-2781. doi: 10.1002/ajmg.a.38379. Epub 2017 Aug 17.

PMID:
28817240
5.

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

Nampoothiri S, Hebbar M, Roy AG, Kochumon SP, Bielas S, Shukla A, Girisha KM.

J Pediatr Genet. 2017 Sep;6(3):191-193. doi: 10.1055/s-0037-1599148. Epub 2017 Mar 7.

PMID:
28794914
6.

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

Abdel-Hamid MS, Issa MY, Otaify GA, Abdel-Ghafar SF, Elbendary HM, Zaki MS.

Clin Genet. 2018 Jan;93(1):84-91. doi: 10.1111/cge.13033. Epub 2017 Aug 4.

PMID:
28390064
7.

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y.

Hum Mutat. 2017 Jul;38(7):805-815. doi: 10.1002/humu.23219. Epub 2017 Apr 20.

PMID:
28337824
8.

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

Naseer MI, Rasool M, Jan MM, Chaudhary AG, Pushparaj PN, Abuzenadah AM, Al-Qahtani MH.

J Neurol Sci. 2016 Dec 15;371:121-125. doi: 10.1016/j.jns.2016.10.027. Epub 2016 Oct 18.

PMID:
27871432
9.

Clinical and genetic analysis of two Chinese infants with Mabry syndrome.

Xue J, Li H, Zhang Y, Yang Z.

Brain Dev. 2016 Oct;38(9):807-18. doi: 10.1016/j.braindev.2016.04.008. Epub 2016 May 10.

PMID:
27177984
10.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM.

Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19.

11.

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.

Zhu N, Heinrich V, Dickhaus T, Hecht J, Robinson PN, Mundlos S, Kamphans T, Krawitz PM.

Bioinformatics. 2015 Nov 15;31(22):3577-83. doi: 10.1093/bioinformatics/btv457. Epub 2015 Aug 6.

PMID:
26249812
12.

Mutations in PIGL in a patient with Mabry syndrome.

Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.

Am J Med Genet A. 2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23.

PMID:
25706356
13.

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM.

Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16.

14.

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H.

Epilepsia. 2014 Feb;55(2):e13-7. doi: 10.1111/epi.12508. Epub 2014 Jan 13.

15.

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.

Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y.

J Med Genet. 2014 Mar;51(3):203-7. doi: 10.1136/jmedgenet-2013-102156. Epub 2013 Dec 23.

PMID:
24367057
16.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P.

Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16.

17.

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.

18.

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D.

Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun 7.

19.

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T.

J Biol Chem. 2012 Feb 24;287(9):6318-25. doi: 10.1074/jbc.M111.331090. Epub 2012 Jan 6.

20.

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P.

Am J Med Genet A. 2011 Aug;155A(8):1917-22. doi: 10.1002/ajmg.a.34102. Epub 2011 Jul 7.

PMID:
21739589

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