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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1384, doi. 10.1002/ajmg.a.62645
By:
- Cappuccio, Gerarda;
- Brunetti‐Pierri, Nicola;
- Clift, Paul;
- Learn, Christopher;
- Dykes, John C.;
- Mercer, Catherine L.;
- Callewaert, Bert;
- Meerschaut, Ilse;
- Spinelli, Alessandro Mauro;
- Bruno, Irene;
- Gillespie, Matthew J.;
- Dorfman, Aaron T.;
- Grimberg, Adda;
- Lindsay, Mark E.;
- Lin, Angela E.
Publication type:
Article
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2494, doi. 10.1002/ajmg.a.61377
By:
- Meerschaut, Ilse;
- Beyens, Aude;
- Steyaert, Wouter;
- De Rycke, Riet;
- Bonte, Katrien;
- De Backer, Tine;
- Janssens, Sandra;
- Panzer, Joseph;
- Plasschaert, Frank;
- De Wolf, Daniël;
- Callewaert, Bert
Publication type:
Article
Severe Congenital Neutropenia with Neurological Impairment Due to a Homozygous VPS45 p.E238K Mutation: A Case Report Suggesting a Genotype-Phenotype Correlation.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3214, doi. 10.1002/ajmg.a.37367
By:
- Meerschaut, Ilse;
- Bordon, Victoria;
- Dhooge, Catharina;
- Delbeke, Patricia;
- Vanlander, Arnaud V.;
- Simon, Amos;
- Klein, Christoph;
- Kooy, R. Frank;
- Somech, Raz;
- Callewaert, Bert
Publication type:
Article
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Published in:
Human Mutation, 2022, v. 43, n. 5, p. 582, doi. 10.1002/humu.24349
By:
- Vegas, Nancy;
- Demir, Zeynep;
- Gordon, Christopher T.;
- Breton, Sylvain;
- Romanelli Tavares, Vanessa L.;
- Moisset, Hugo;
- Zechi‐Ceide, Roseli;
- Kokitsu‐Nakata, Nancy M.;
- Kido, Yasuhiro;
- Marlin, Sandrine;
- Gherbi Halem, Souad;
- Meerschaut, Ilse;
- Callewaert, Bert;
- Chung, Brian;
- Revencu, Nicole;
- Lehalle, Daphné;
- Petit, Florence;
- Propst, Evan J.;
- Papsin, Blake C.;
- Phillips, John H.
Publication type:
Article
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
Published in:
Genes, 2022, v. 13, n. 7, p. 1214, doi. 10.3390/genes13071214
By:
- Meerschaut, Ilse;
- Steyaert, Wouter;
- Bové, Thierry;
- François, Katrien;
- Martens, Thomas;
- De Groote, Katya;
- De Wilde, Hans;
- Muiño Mosquera, Laura;
- Panzer, Joseph;
- Vandekerckhove, Kristof;
- Moons, Lara;
- Vermassen, Petra;
- Symoens, Sofie;
- Coucke, Paul J.;
- De Wolf, Daniël;
- Callewaert, Bert
Publication type:
Article
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.
Published in:
Genes, 2021, v. 12, n. 7, p. 1048, doi. 10.3390/genes12071048
By:
- Meerschaut, Ilse;
- Vergult, Sarah;
- Dheedene, Annelies;
- Menten, Björn;
- De Groote, Katya;
- De Wilde, Hans;
- Muiño Mosquera, Laura;
- Panzer, Joseph;
- Vandekerckhove, Kristof;
- Coucke, Paul J.;
- De Wolf, Daniël;
- Callewaert, Bert
Publication type:
Article

Found: 6

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.

Severe Congenital Neutropenia with Neurological Impairment Due to a Homozygous VPS45 p.E238K Mutation: A Case Report Suggesting a Genotype-Phenotype Correlation.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.