Ghent University Academic Bibliography

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Your filters: cql: author="McEntagart, Meriel" or (type exact bookEditor and editor="McEntagart, Meriel")

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P. Bupp, Bert Callewaert (UGent) , et al.

(2021) GENETICS IN MEDICINE. 23(2). p.384-395
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

Thabo M. Yates, Morgan Drucker, Angela Barnicoat, Karen Low, Erica H. Gerkes, Andrew E. Fry, Michael J. Parker, Mary O'Driscoll, Perrine Charles, Helen Cox, et al.

(2020) HUMAN MUTATION. 41(5). p.1042-1050
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Viviana Cordeddu, Erica L. Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni, Massimo Tatti, Emanuele Bellacchio, Andrea Ciolfi, Emanuele Agolini, Alessandro Bruselles, et al.

(2020) CLINICAL GENETICS. 98(2). p.172-178
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Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, et al.

(2018) AMERICAN JOURNAL OF HUMAN GENETICS. 102(1). p.69-87
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A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect

Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere (UGent) , Hannah Verdin (UGent) , L Therese Bergendahl, Alan Quigley, Joe Rainger, et al.

(2016) AMERICAN JOURNAL OF HUMAN GENETICS. 98(5). p.981-992
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Kristien Hoornaert (UGent) , Inge Vereecke (UGent) , Chantal Dewinter (UGent) , Thomas Rosenberg, Frits A Beemer, Juliaan Leroy (UGent) , Laila Bendix, Erik Björck, Maryse Bonduelle, Odile Boute, et al.

(2010) EUROPEAN JOURNAL OF HUMAN GENETICS. 18(8). p.872-880

Academic Bibliography

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

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