Preview
Sign-in for full Details 
Sign-in free and Explore the Exciting World of BiomedExperts:
- Over 1.500.000 Profiles
- More than 1.800 Organizations worldwide
- State of the Art Network Visualizations
- Manage your own Profile
- Locate Experts in your Country/Region
- Locate Experts in your 1. and 2. Level Network
- Connect to Experts Worldwide
NetworkView
Grazia Mancini
This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers
together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles
free of charge to researchers worldwide.
Research Profile (preview)
Disorders
Living Beings
Anatomy
Chemicals & Drugs
Concepts & Ideas
Procedures
Physiology
Sign-in to see full Profile
Network (preview)
25
Verheijen, Frans
11
Lequin, Maarten
10
Beerens, Cecile
9
de Coo, I F M
7
Havelaar, AC
7
Kleijer, Wim
7
van Diggelen, Otto
5
Verbeek, Elly
5
Huijmans, Jan
5
Galjaard, H
4
Catsman-Berrevoets, Coriene
4
van der Spek, Peter
4
Willems, Patrick
4
Schot, Robert
3
Wessels, Marja
Sign-in to see all Coauthors
Publications
Sign-in to see all Publications
Sign in free and see...
Visualized networks:
See your personal network in
sophisticated graphical views
GeoTargeted Searches:
Locate experts around the world
and connect with global collaborators
Research Profiles:
See the visualized research activity
of experts around the globe
Sign-in to see more
Geonetwork of Grazia Mancini (preview)
Cities where this author has publications
Cities where co-authors of this author have publications
Sign-in to see more
All Publications
-
2009: de Wit M C Y; de Coo I F M; Halley D J J; Lequin M H; Mancini G M S
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.
Neurogenetics 2009;10(4):333-6.
-
2009: Verkerk Annemieke J M H; Schot Rachel; Dumee Belinda; Schellekens Karlijn; Swagemakers Sigrid; Bertoli-Avella Aida M; Lequin Maarten H; Dudink Jeroen; Govaert Paul; van Zwol A L; Hirst Jennifer; Wessels Marja W; Catsman-Berrevoets Coriene; Verheijen Frans W; de Graaff Esther; de Coo Irenaeus F M; Kros Johan M; Willemsen Rob; Willems Patrick J; van der Spek Peter J; Mancini Grazia M S
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
American journal of human genetics 2009;85(1):40-52.
-
2009: Sarkozy Anna; Carta Claudio; Moretti Sonia; Zampino Giuseppe; Digilio Maria C; Pantaleoni Francesca; Scioletti Anna Paola; Esposito Giorgia; Cordeddu Viviana; Lepri Francesca; Petrangeli Valentina; Dentici Maria L; Mancini Grazia M S; Selicorni Angelo; Rossi Cesare; Mazzanti Laura; Marino Bruno; Ferrero Giovanni B; Silengo Margherita Cirillo; Memo Luigi; Stanzial Franco; Faravelli Francesca; Stuppia Liborio; Puxeddu Efisio; Gelb Bruce D; Dallapiccola Bruno; Tartaglia Marco
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Human mutation 2009;30(4):695-702.
-
2009: Seifert Wenke; Holder-Espinasse Muriel; Kühnisch Jirko; Kahrizi Kimia; Tzschach Andreas; Garshasbi Masoud; Najmabadi Hossein; Walter Kuss Andreas; Kress Wolfram; Laureys Geneviève; Loeys Bart; Brilstra Eva; Mancini Grazia M S; Dollfus Hélène; Dahan Karin; Apse Kira; Hennies Hans Christian; Horn Denise
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Human mutation 2009;30(2):E404-20.
-
2008: Betsalel Ofir T; van de Kamp Jiddeke M; Martínez-Muñoz Cristina; Rosenberg Efraim H; de Brouwer Arjan P M; Pouwels Petra J W; van der Knaap Marjo S; Mancini Grazia M S; Jakobs Cornelis; Hamel Ben C J; Salomons Gajja S
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
Neurogenetics 2008;9(3):183-90.
-
2008: Maingay-de Groof Femke; Lequin Maarten H; Roofthooft Daniella W; Oranje Arnold P; de Coo Irenaeus F; Bok Levinus A; van der Spek Peter J; Mancini Grazia M; Govaert Paul P
Extensive cerebral infarction in the newborn due to incontinentia pigmenti.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(4):284-9.
-
2008: de Wit Marie Claire Yvette; Lequin Maarten H; de Coo Ireneaus F M; Brusse Esther; Halley Dicky J J; van de Graaf Raoul; Schot Rachel; Verheijen Frans W; Mancini Grazia M S
Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.
Archives of neurology 2008;65(3):358-66.
-
2008: Kroes Hester Y; van Zon Patrick H A; Fransen van de Putte Dietje; Nelen Marcel R; Nievelstein Rutger-Jan; Wittebol-Post Dienke; van Nieuwenhuizen Onno; Mancini Grazia M S; van der Knaap Marjo S; Kwee Mei Lan; Maas Saskia M; Cobben Jan Maarten; De Nef Jacques E E; Lindhout Dick; Sinke Richard J
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
European journal of medical genetics 2008;51(1):24-34.
-
2007: Garavelli L; Guareschi E; Errico S; Simoni A; Bergonzini P; Zollino M; Gurrieri F; Mancini G M; Schot R; Van Der Spek P J; Frigieri G; Zonari P; Albertini E; Giustina E Della; Amarri S; Banchini G; Dobyns W B; Neri G
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
Neuropediatrics 2007;38(4):200-3.
-
2006: van Ramshorst Gabrielle H; Lequin Maarten H; Mancini Grazia M S; van de Ven Cornelis P
A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis.
Journal of pediatric surgery 2006;41(12):e19-23.
-
2006: de Wit M C Y; de Coo I F M; Julier C; Delépine M; Lequin M H; van de Laar I; Sibbles B J; Bruining G J; Mancini G M S
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.
Neurogenetics 2006;7(4):259-63.
-
2006: 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
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Journal of medical genetics 2006;43(6):490-5.
-
2006: Coucke Paul J; Willaert Andy; Wessels Marja W; Callewaert Bert; Zoppi Nicoletta; De Backer Julie; Fox Joyce E; Mancini Grazia M S; Kambouris Marios; Gardella Rita; Facchetti Fabio; Willems Patrick J; Forsyth Ramses; Dietz Harry C; Barlati Sergio; Colombi Marina; Loeys Bart; De Paepe Anne
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Nature genetics 2006;38(4):452-7.
-
2006: de Wit M C Y; de Coo I F M; Verbeek E; Schot R; Schoonderwoerd G C; Duran M; de Klerk J B C; Huijmans J G M; Lequin M H; Verheijen F W; Mancini G M S
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.
Molecular genetics and metabolism 2006;87(2):102-6.
-
2005: Biancheri R; Rossi A; Verbeek H A; Schot R; Corsolini F; Assereto S; Mancini G M S; Verheijen F W; Minetti C; Filocamo M
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
Neurogenetics 2005;6(4):195-9.
-
2005: Yarovaya Natalia; Schot Rachel; Fodero Lisa; McMahon Michelle; Mahoney Alexis; Williams Rachael; Verbeek Elly; de Bondt An; Hampson Mark; van der Spek Peter; Stubbs Andrew; Masters Colin L; Verheijen Frans W; Mancini Grazia M S; Venter Deon J
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.
Neurobiology of disease 2005;19(3):351-65.
-
2005: de Wit Marie Claire Y; Lequin Maarten H; de Coo René F M; Mancini Grazia M S
Re: polymicrogyria versus pachygyria in 22q11 microdeletion.
American journal of medical genetics. Part A 2005;136A(4):419; author reply 420-1.
-
2005: Brooks Alice S; Bertoli-Avella Aida M; Burzynski Grzegorz M; Breedveld Guido J; Osinga Jan; Boven Ludolf G; Hurst Jane A; Mancini Grazia M S; Lequin Maarten H; de Coo Rene F; Matera Ivana; de Graaff Esther; Meijers Carel; Willems Patrick J; Tibboel Dick; Oostra Ben A; Hofstra Robert M W
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
American journal of human genetics 2005;77(1):120-6.
-
2005: 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
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.
American journal of medical genetics. Part A 2005;132A(3):288-95.
-
2004: Wessels Marja W; Catsman-Berrevoets Coriene E; Mancini Grazia M S; Breuning Martijn H; Hoogeboom Jeanette J M; Stroink Hans; Frohn-Mulder Ingrid; Coucke Paul J; Paepe Anne De; Niermeijer Martinus F; Willems Patrick J
Three new families with arterial tortuosity syndrome.
American journal of medical genetics. Part A 2004;131(2):134-43.
-
2004: Cosma Maria Pia; Pepe Stefano; Parenti Giancarlo; Settembre Carmine; Annunziata Ida; Wade-Martins Richard; Di Domenico Carmela; Di Natale Paola; Mankad Anuj; Cox Barbara; Uziel Graziella; Mancini Grazia M S; Zammarchi Enrico; Donati Maria Alice; Kleijer Wim J; Filocamo Mirella; Carrozzo Romeo; Carella Massimo; Ballabio Andrea
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Human mutation 2004;23(6):576-81.
-
2004: Kleijer W J; van Diggelen O P; Halley D J; van der Ploeg A T; Mancini G M
[From gene to disease; Krabbe disease and galactosylceramidase deficiency]
Nederlands tijdschrift voor geneeskunde 2004;148(17):826-8.
-
2004: Melis D; Havelaar A C; Verbeek E; Smit G P A; Benedetti A; Mancini G M S; Verheijen F
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic.
Journal of inherited metabolic disease 2004;27(6):725-33.
-
2004: Mancini G M S; de Coo I F M; Lequin M H; Arts W F
Hereditary porencephaly: clinical and MRI findings in two Dutch families.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2004;8(1):45-54.
-
2003: Tylki-Szymanska Anna; Czartoryska Barbara; Lugowska Agnieszka; Verheijen Frans W; Mancini Grazia M S; Rokicki Dariusz; Taybert Joanna; Chmielínska Elzbieta
Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.
Pediatrics international : official journal of the Japan Pediatric Society 2003;45(2):199-200.
-
2003: Mancini G M S; van Diggelen O P; Kleijer W J; Di Rocco M; Farina V; Yuksel-Apak M; Kayserili H; Halley D J J
Studies on the pathogenesis of Costello syndrome.
Journal of medical genetics 2003;40(4):e37.
-
2003: Parazzini Cecilia; Arena Saverio; Marchetti Lucrezia; Menni Francesca; Filocamo Mirella; Verheijen Frans W; Mancini Grazia M S; Triulzi Fabio; Parini Rossella
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.
AJNR. American journal of neuroradiology 2003;24(3):398-400.
-
2002: Biancheri R; Verbeek E; Rossi A; Gaggero R; Roccatagliata L; Gatti R; van Diggelen Op; Verheijen F W; Mancini G M S
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
Clinical genetics 2002;61(6):443-7.
-
2001: Mancini G M; van Diggelen O P; Huijmans J G; Stroink H; de Coo R F
Pitfalls in the diagnosis of multiple sulfatase deficiency.
Neuropediatrics 2001;32(1):38-40.
-
2000: Mancini G M; Havelaar A C; Verheijen F W
Lysosomal transport disorders.
Journal of inherited metabolic disease 2000;23(3):278-92.
-
1999: Verheijen F W; Verbeek E; Aula N; Beerens C E; Havelaar A C; Joosse M; Peltonen L; Aula P; Galjaard H; van der Spek P J; Mancini G M
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Nature genetics 1999;23(4):462-5.
-
1999: Voznyi Y V; Keulemans J L; Mancini G M; Catsman-Berrevoets C E; Young E; Winchester B; Kleijer W J; van Diggelen O P
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants.
Journal of medical genetics 1999;36(6):471-4.
-
1999: Havelaar A C; Beerens C E; Mancini G M; Verheijen F W
Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.
FEBS letters 1999;446(1):65-8.
-
1999: Mancini G M; Stojanov L; Willemsen R; Kleijer W J; Huijmans J G; van Diggelen O P; de Klerk J B; Vuzevski V D; Oranje A P
Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.
Dermatology (Basel, Switzerland) 1999;198(1):18-25.
-
1998: Havelaar A C; Mancini G M; Beerens C E; Souren R M; Verheijen F W
Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter.
The Journal of biological chemistry 1998;273(51):34568-74.
-
1998: Verheijen F W; Beerens C E; Havelaar A C; Kleijer W J; Mancini G M
Fibroblast silver loading for the diagnosis of Menkes disease.
Journal of medical genetics 1998;35(10):849-51.
-
1998: Havelaar A C; de Gast I L; Snijders S; Beerens C E; Mancini G M; Verheijen F W
Characterization of a heavy metal ion transporter in the lysosomal membrane.
FEBS letters 1998;436(2):223-7.
-
1996: de Klerk J B; Duran M; Huijmans J G; Mancini G M
Sudden infant death and lysinuric protein intolerance.
European journal of pediatrics 1996;155(3):256-7.
-
1992: Mancini G M; Hu P; Verheijen F W; van Diggelen O P; Janse H C; Kleijer W J; Beemer F A; Jennekens F G
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.
European journal of pediatrics 1992;151(8):590-5.
-
1992: Tilly B C; Mancini G M; Bijman J; van Gageldonk P G; Beerens C E; Bridges R J; de Jonge H R; Verheijen F W
Nucleotide-activated chloride channels in lysosomal membranes.
Biochemical and biophysical research communications 1992;187(1):254-60.
-
1992: Mancini G M; Beerens C E; Galjaard H; Verheijen F W
Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(14):6609-13.
-
1991: Mancini G M; Beerens C E; Aula P P; Verheijen F W
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.
The Journal of clinical investigation 1991;87(4):1329-35.
-
1991: Mancini G M; Verheijen F W; Beerens C E; Renlund M; Aula P
Sialic acid storage disorders: observations on clinical and biochemical variation.
Developmental neuroscience 1991;13(4-5):327-30.
-
1990: Mancini G M; Beerens C E; Verheijen F W
Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses.
The Journal of biological chemistry 1990;265(21):12380-7.
-
1990: van der Horst G T; Mancini G M; Brossmer R; Rose U; Verheijen F W
Photoaffinity labeling of a bacterial sialidase with an aryl azide derivative of sialic acid.
The Journal of biological chemistry 1990;265(19):10801-4.
-
1989: Mancini G M; de Jonge H R; Galjaard H; Verheijen F W
Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides.
The Journal of biological chemistry 1989;264(26):15247-54.
-
1987: Galjaard H; Willemsen R; Hoogeveen A T; Mancini G M; Palmeri S; Verheijen F W; D'Azzo A
Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.
Enzyme 1987;38(1-4):132-43.
-
1986: Mancini G M; Verheijen F W; Galjaard H
Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.
Human genetics 1986;73(3):214-7.
-
1986: Mancini G M; Hoogeveen A T; Galjaard H; Mansson J E; Svennerholm L
Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.
Human genetics 1986;73(1):35-8.
Sign-in to see more
