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    Results: 1 to 50 of 57

    1.

    Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

    Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM.

    Am J Hum Genet. 2009 Jul;85(1):40-52. Epub 2009 Jun 25.PMID: 19559397 [PubMed - indexed for MEDLINE]Related articles

    2.

    Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.

    de Wit MC, de Coo IF, Halley DJ, Lequin MH, Mancini GM.

    Neurogenetics. 2009 Oct;10(4):333-6. Epub 2009 Apr 22.PMID: 19384555 [PubMed - in process]Related articlesFree article

    3.

    Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.

    de Wit MC, Kros JM, Halley DJ, de Coo IF, Verdijk R, Jacobs BC, Mancini GM.

    J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):426-8.PMID: 19289478 [PubMed - indexed for MEDLINE]Related articles

    4.

    Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

    Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M.

    Hum Mutat. 2009 Apr;30(4):695-702.PMID: 19206169 [PubMed - indexed for MEDLINE]Related articles

    5.

    Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

    Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D.

    Hum Mutat. 2009 Feb;30(2):E404-20.PMID: 19006247 [PubMed - indexed for MEDLINE]Related articles

    6.

    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

    Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.

    J Med Genet. 2008 Nov;45(11):710-20. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009 Aug;46(8):576. PMID: 18628315 [PubMed - indexed for MEDLINE]Related articles

    7.

    Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

    Betsalel OT, van de Kamp JM, Martínez-Muñoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS.

    Neurogenetics. 2008 Jul;9(3):183-90. Epub 2008 Mar 19.PMID: 18350323 [PubMed - indexed for MEDLINE]Related articles

    8.

    Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

    de Wit MC, Lequin MH, de Coo IF, Brusse E, Halley DJ, van de Graaf R, Schot R, Verheijen FW, Mancini GM.

    Arch Neurol. 2008 Mar;65(3):358-66.PMID: 18332248 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

    Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Giustina ED, Amarri S, Banchini G, Dobyns WB, Neri G.

    Neuropediatrics. 2007 Aug;38(4):200-3.PMID: 18058629 [PubMed - indexed for MEDLINE]Related articles

    10.

    DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

    Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ.

    Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. Epub 2007 Oct 6.PMID: 18054307 [PubMed - indexed for MEDLINE]Related articles

    11.

    Extensive cerebral infarction in the newborn due to incontinentia pigmenti.

    Maingay-de Groof F, Lequin MH, Roofthooft DW, Oranje AP, de Coo IF, Bok LA, van der Spek PJ, Mancini GM, Govaert PP.

    Eur J Paediatr Neurol. 2008 Jul;12(4):284-9. Epub 2007 Oct 22.PMID: 17950640 [PubMed - indexed for MEDLINE]Related articles

    12.

    A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis.

    van Ramshorst GH, Lequin MH, Mancini GM, van de Ven CP.

    J Pediatr Surg. 2006 Dec;41(12):e19-23.PMID: 17161173 [PubMed - indexed for MEDLINE]Related articles

    13.

    Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

    de Wit MC, de Coo IF, Julier C, Delépine M, Lequin MH, van de Laar I, Sibbles BJ, Bruining GJ, Mancini GM.

    Neurogenetics. 2006 Nov;7(4):259-63. Epub 2006 Sep 14.PMID: 16972080 [PubMed - indexed for MEDLINE]Related articles

    14.

    Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

    Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.

    Nat Genet. 2006 Apr;38(4):452-7. Epub 2006 Mar 19.PMID: 16550171 [PubMed - indexed for MEDLINE]Related articles

    15.

    Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

    de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM.

    Mol Genet Metab. 2006 Feb;87(2):102-6. Epub 2005 Nov 4.PMID: 16275149 [PubMed - indexed for MEDLINE]Related articles

    16.

    Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

    Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M.

    Neurogenetics. 2005 Dec;6(4):195-9. Epub 2005 Sep 17.PMID: 16170568 [PubMed - indexed for MEDLINE]Related articles

    17.

    Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

    Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.

    J Med Genet. 2006 Jun;43(6):490-5. Epub 2005 Aug 17.PMID: 16107487 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.

    Yarovaya N, Schot R, Fodero L, McMahon M, Mahoney A, Williams R, Verbeek E, de Bondt A, Hampson M, van der Spek P, Stubbs A, Masters CL, Verheijen FW, Mancini GM, Venter DJ.

    Neurobiol Dis. 2005 Aug;19(3):351-65.PMID: 16023578 [PubMed - indexed for MEDLINE]Related articles

    19.

    Re: polymicrogyria versus pachygyria in 22q11 microdeletion.

    de Wit MC, Lequin MH, de Coo RF, Mancini GM.

    Am J Med Genet A. 2005 Aug 1;136A(4):419; author reply 420-1. No abstract available. PMID: 16001437 [PubMed - indexed for MEDLINE]Related articles

    20.

    Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

    Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM.

    Am J Hum Genet. 2005 Jul;77(1):120-6. Epub 2005 May 9.PMID: 15883926 [PubMed - indexed for MEDLINE]Related articlesFree article

    21.

    Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

    Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS.

    Am J Med Genet A. 2005 Jan 30;132A(3):288-95.PMID: 15690373 [PubMed - indexed for MEDLINE]Related articles

    22.

    Three new families with arterial tortuosity syndrome.

    Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ.

    Am J Med Genet A. 2004 Dec 1;131(2):134-43.PMID: 15529317 [PubMed - indexed for MEDLINE]Related articles

    23.

    NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic.

    Melis D, Havelaar AC, Verbeek E, Smit GP, Benedetti A, Mancini GM, Verheijen F.

    J Inherit Metab Dis. 2004;27(6):725-33.PMID: 15505377 [PubMed - indexed for MEDLINE]Related articles

    24.

    Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

    Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A.

    Hum Mutat. 2004 Jun;23(6):576-81.PMID: 15146462 [PubMed - indexed for MEDLINE]Related articles

    25.

    [From gene to disease; Krabbe disease and galactosylceramidase deficiency]

    Kleijer WJ, van Diggelen OP, Halley DJ, van der Ploeg AT, Mancini GM.

    Ned Tijdschr Geneeskd. 2004 Apr 24;148(17):826-8. Dutch. PMID: 15141649 [PubMed - indexed for MEDLINE]Related articles

    26.

    Hereditary porencephaly: clinical and MRI findings in two Dutch families.

    Mancini GM, de Coo IF, Lequin MH, Arts WF.

    Eur J Paediatr Neurol. 2004;8(1):45-54.PMID: 15023374 [PubMed - indexed for MEDLINE]Related articles

    27.

    Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.

    Tylki-Szymańska A, Czartoryska B, Lugowska A, Verheijen FW, Mancini GM, Rokicki D, Taybert J, Chmielíńska E.

    Pediatr Int. 2003 Apr;45(2):199-200. No abstract available. PMID: 12709150 [PubMed - indexed for MEDLINE]Related articles

    28.

    Studies on the pathogenesis of Costello syndrome.

    Mancini GM, van Diggelen OP, Kleijer WJ, Di Rocco M, Farina V, Yuksel-Apak M, Kayserili H, Halley DJ.

    J Med Genet. 2003 Apr;40(4):e37. No abstract available. PMID: 12676910 [PubMed - indexed for MEDLINE]Related articlesFree article

    29.

    Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

    Parazzini C, Arena S, Marchetti L, Menni F, Filocamo M, Verheijen FW, Mancini GM, Triulzi F, Parini R.

    AJNR Am J Neuroradiol. 2003 Mar;24(3):398-400. No abstract available. PMID: 12637289 [PubMed - indexed for MEDLINE]Related articlesFree article

    30.

    Mechanisms of copper incorporation into human ceruloplasmin.

    Hellman NE, Kono S, Mancini GM, Hoogeboom AJ, De Jong GJ, Gitlin JD.

    J Biol Chem. 2002 Nov 29;277(48):46632-8. Epub 2002 Sep 25.PMID: 12351628 [PubMed - indexed for MEDLINE]Related articlesFree article

    31.

    An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.

    Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM.

    Clin Genet. 2002 Jun;61(6):443-7.PMID: 12121352 [PubMed - indexed for MEDLINE]Related articles

    32.

    Pitfalls in the diagnosis of multiple sulfatase deficiency.

    Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF.

    Neuropediatrics. 2001 Feb;32(1):38-40.PMID: 11315200 [PubMed - indexed for MEDLINE]Related articles

    33.

    A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants.

    Voznyi YV, Keulemans JL, Mancini GM, Catsman-Berrevoets CE, Young E, Winchester B, Kleijer WJ, van Diggelen OP.

    J Med Genet. 1999 Jun;36(6):471-4.PMID: 10874636 [PubMed - indexed for MEDLINE]Related articlesFree article

    34.

    Lysosomal transport disorders.

    Mancini GM, Havelaar AC, Verheijen FW.

    J Inherit Metab Dis. 2000 May;23(3):278-92. Review.PMID: 10863944 [PubMed - indexed for MEDLINE]Related articles

    35.

    A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

    Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM.

    Nat Genet. 1999 Dec;23(4):462-5.PMID: 10581036 [PubMed - indexed for MEDLINE]Related articles

    36.

    Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.

    Havelaar AC, Beerens CE, Mancini GM, Verheijen FW.

    FEBS Lett. 1999 Mar 5;446(1):65-8.PMID: 10100616 [PubMed - indexed for MEDLINE]Related articles

    37.

    Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.

    Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP.

    Dermatology. 1999;198(1):18-25.PMID: 10026396 [PubMed - indexed for MEDLINE]Related articles

    38.

    Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter.

    Havelaar AC, Mancini GM, Beerens CE, Souren RM, Verheijen FW.

    J Biol Chem. 1998 Dec 18;273(51):34568-74.PMID: 9852127 [PubMed - indexed for MEDLINE]Related articlesFree article

    39.

    Fibroblast silver loading for the diagnosis of Menkes disease.

    Verheijen FW, Beerens CE, Havelaar AC, Kleijer WJ, Mancini GM.

    J Med Genet. 1998 Oct;35(10):849-51.PMID: 9783711 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    Characterization of a heavy metal ion transporter in the lysosomal membrane.

    Havelaar AC, de Gast IL, Snijders S, Beerens CE, Mancini GM, Verheijen FW.

    FEBS Lett. 1998 Oct 2;436(2):223-7.PMID: 9781683 [PubMed - indexed for MEDLINE]Related articles

    41.

    Sudden infant death and lysinuric protein intolerance.

    de Klerk JB, Duran M, Huijmans JG, Mancini GM.

    Eur J Pediatr. 1996 Mar;155(3):256-7. No abstract available. PMID: 8929742 [PubMed - indexed for MEDLINE]Related articles

    42.

    Infantile sialic acid storage disease: biochemical studies.

    Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B.

    Am J Med Genet. 1995 Jul 31;58(1):24-31.PMID: 7573152 [PubMed - indexed for MEDLINE]Related articles

    43.

    Nucleotide-activated chloride channels in lysosomal membranes.

    Tilly BC, Mancini GM, Bijman J, van Gageldonk PG, Beerens CE, Bridges RJ, de Jonge HR, Verheijen FW.

    Biochem Biophys Res Commun. 1992 Aug 31;187(1):254-60.PMID: 1325789 [PubMed - indexed for MEDLINE]Related articles

    44.

    Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

    Mancini GM, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleijer WJ, Beemer FA, Jennekens FG.

    Eur J Pediatr. 1992 Aug;151(8):590-5.PMID: 1505579 [PubMed - indexed for MEDLINE]Related articles

    45.

    Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.

    Mancini GM, Beerens CE, Galjaard H, Verheijen FW.

    Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6609-13.PMID: 1631163 [PubMed - indexed for MEDLINE]Related articlesFree article

    46.

    Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

    Mancini GM, Beerens CE, Aula PP, Verheijen FW.

    J Clin Invest. 1991 Apr;87(4):1329-35.PMID: 2010546 [PubMed - indexed for MEDLINE]Related articlesFree article

    47.

    Sialic acid storage disorders: observations on clinical and biochemical variation.

    Mancini GM, Verheijen FW, Beerens CE, Renlund M, Aula P.

    Dev Neurosci. 1991;13(4-5):327-30. Review.PMID: 1817039 [PubMed - indexed for MEDLINE]Related articles

    48.

    Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses.

    Mancini GM, Beerens CE, Verheijen FW.

    J Biol Chem. 1990 Jul 25;265(21):12380-7.PMID: 2373697 [PubMed - indexed for MEDLINE]Related articlesFree article

    49.

    Photoaffinity labeling of a bacterial sialidase with an aryl azide derivative of sialic acid.

    van der Horst GT, Mancini GM, Brossmer R, Rose U, Verheijen FW.

    J Biol Chem. 1990 Jul 5;265(19):10801-4.PMID: 2358439 [PubMed - indexed for MEDLINE]Related articlesFree article

    50.

    Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides.

    Mancini GM, de Jonge HR, Galjaard H, Verheijen FW.

    J Biol Chem. 1989 Sep 15;264(26):15247-54.PMID: 2768261 [PubMed - indexed for MEDLINE]Related articlesFree article

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