Search Results - "Mancini, G. M. S."

Male patients affected by mosaic PCDH19 mutations: five new cases by de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A., Brilstra, E. H.

“…Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and…”
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Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects by de Wit, M C Y, Kros, J M, Halley, D J J, de Coo, I F M, Verdijk, R, Jacobs, B C, Mancini, G M S

“…Filamin A is an important gene involved in the development of the brain, heart, connective tissue and blood vessels. A case is presented illustrating the…”
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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability by Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., Stegmann, A. P. A., Stevens, S. J. C., Lelieveld, S. H., Gilissen, C., Pfundt, R., Tan, P. L., Kleefstra, T., Franke, B., Elgersma, Y., Katsanis, N., Brunner, H. G.

“…De novo mutations in specific mTOR pathway genes cause brain overgrowth in the context of intellectual disability (ID). By analyzing 101 mMTOR-related genes in…”
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Movement disorder and neuronal migration disorder due to ARFGEF2 mutation by de Wit, M. C. Y., de Coo, I. F. M., Halley, D. J. J., Lequin, M. H., Mancini, G. M. S.

“…We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on…”
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Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly by Breedveld, G, de Coo, I F, Lequin, M H, Arts, W F M, Heutink, P, Gould, D B, John, S W M, Oostra, B, Mancini, G M S

“…Background: Porencephaly (cystic cavities of the brain) is caused by perinatal vascular accidents from various causes. Several familial cases have been…”
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SPORADIC COL4A1 MUTATIONS WITH EXTENSIVE PRENATAL PORENCEPHALY RESEMBLING HYDRANENCEPHALY by MEUWISSEN, M. E. C, DE VRIES, L. S, WESSELS, M. W, MANCINI, G. M. S, VERBEEK, H. A, LEQUIN, M. H, GOVAERT, P. P, SCHOT, R, COWAN, F. M, HENNEKAM, R, RIZZU, P, VERHEIJEN, F. W

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NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic by Melis, D., Havelaar, A. C., Verbeek, E., Smit, G. P. A., Benedetti, A., Mancini, G. M. S., Verheijen, F.

“…Deficiency of a microsomal phosphate transporter in the liver has been suggested in some patients affected by glycogen storage disease type Ic (GSD Ic)…”
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Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease by BIANCHERI, R, ROSSI, A, VERBEEK, H. A, SCHOT, R, CORSOLINI, F, ASSERETO, S, MANCINI, G. M. S, VERHEIJEN, F. W, MINETTI, C, FILOCAMO, M

“…Lysosomal free sialic acid storage diseases are recessively inherited allelic neurodegenerative disorders that include Salla disease (SD) and infantile sialic…”
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Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation by Gafner, M, Garel, C, Leibovitz, Z, Valence, S, Krajden Haratz, K, Oegema, R, Mancini, G M S, Heron, D, Bueltmann, E, Burglen, L, Rodriguez, D, Huisman, T A G M, Lequin, M H, Arad, A, Kidron, D, Muqary, M, Gindes, L, Lev, D, Boltshauser, E, Lerman-Sagie, T

“…Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book from 2005 as an anomalous mass…”
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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2) by Banka, S., Lederer, D., Benoit, V., Jenkins, E., Howard, E., Bunstone, S., Kerr, B., McKee, S., Lloyd, I.C., Shears, D., Stewart, H., White, S.M., Savarirayan, R., Mancini, G.M.S., Beysen, D., Cohn, R.D., Grisart, B., Maystadt, I., Donnai, D.

“…We describe seven patients with KDM6A (located on Xp11.3 and encodes UTX) mutations, a rare cause of Kabuki syndrome (KS2, MIM 300867) and report, for the…”
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome by Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Van der Aa, N, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, 2nd, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A

“…The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in…”
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Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus by DE WIT, M. C. Y, DE COO, I. F. M, JULIER, C, DELEPINE, M, LEQUIN, M. H, VAN DE LAAR, I, SIBBLES, B. J, BRUINING, G. J, MANCINI, G. M. S

“…Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent…”
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Lysosomal transport disorders by Mancini, G. M. S., Havelaar, A. C., Verheijen, F. W.

“…In the group of lysosomal storage diseases, transport disorders occupy a special place because they represent rare examples of inborn errors of metabolism…”
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Clinical features and X-inactivation in females heterozygous for creatine transporter defect by van de Kamp, JM, Mancini, GMS, Pouwels, PJW, Betsalel, OT, van Dooren, SJM, de Koning, I, Steenweg, ME, Jakobs, C, van der Knaap, MS, Salomons, GS

“…van de Kamp JM, Mancini GMS, Pouwels PJW, Betsalel OT, van Dooren SJM, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS. Clinical features and…”
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Lung disease in FLNA mutation: Confirmatory report by de Wit, M.C.Y, Tiddens, H.A.W.M, de Coo, I.F.M, Mancini, G.M.S

“…Abstract Recently in this journal, Masurel-Paulet et al. reported the association between pulmonary disease and a mutation in X-linked FLNA in a male patient…”
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Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A by Oegema, R., de Klein, A., Verkerk, A.J., Schot, R., Dumee, B., Douben, H., Eussen, B., Dubbel, L., Poddighe, P.J., van der Laar, I., Dobyns, W.B., van der Spek, P.J., Lequin, M.H., de Coo, I.F.M., de Wit, M.-C.Y., Wessels, M.W., Mancini, G.M.S.

“…Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially…”
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Absence epilepsy and periventricular nodular heterotopia by de Wit, M.C.Y, Schippers, H.M, de Coo, I.F.M, Arts, W.F.M, Lequin, M.H, Brooks, A, Visser, G.H, Mancini, G.M.S

“…Abstract We report a case of a girl who presented with typical absence seizures at age of 4.5 years. EEG showed absence seizures of sudden onset with 3 Hz…”
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Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families by Mancini, G.M.S., Catsman-Berrevoets, C.E., de Coo, I.F.M., Aarsen, F.K., Kamphoven, J.H.J., Huijmans, J.G., Duran, M., van der Knaap, M.S., Jakobs, C., Salomons, G.S.

“…Four Dutch male patients, two brothers from unrelated families were referred for investigation of psychomotor and severe language/speech delay. All four…”
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An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease by Biancheri, R, Verbeek, E, Rossi, A, Gaggero, R, Roccatagliata, L, Gatti, R, Van Diggelen, Op, Verheijen, FW, Mancini, GMS

“…The present study reports two Italian brothers affected by severe Salla disease (sialic acid storage disease), a slowly progressive autosomal recessive…”
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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants by Voznyi, Y V, Keulemans, J L M, Mancini, G M S, Catsman-Berrevoets, C E, Young, E, Winchester, B, Kleijer, W J, van Diggelen, O P

“…Palmitoyl-protein thioesterase (PPT) deficiency was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The available…”
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