Works matching AU Gardham, Alice

Results: 9

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1637, doi. 10.1002/ajmg.a.61599
By:
- Durkin, Anna;
- Albaba, Shadi;
- Fry, Andrew E.;
- Morton, Jenny E.;
- Douglas, Andrew;
- Beleza, Ana;
- Williams, Denise;
- Volker‐Touw, Catharina M.L.;
- Lynch, Sally A.;
- Canham, Natalie;
- Clowes, Virginia;
- Straub, Volker;
- Lachlan, Katherine;
- Gibbon, Frances;
- El Gamal, Mayy;
- Varghese, Vinod;
- Parker, Michael J.;
- Newbury‐Ecob, Ruth;
- Turnpenny, Peter D.;
- Gardham, Alice
Publication type:
Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
By:
- Alabdulrazzaq, Fatima;
- Alanzi, Talal;
- Al‐Balool, Haya H.;
- Gardham, Alice;
- Wakeling, Emma;
- Leitch, Harry G.;
- AlSayed, Moeenaldeen;
- Abdulrahim, Maha;
- Aladwani, Abdulaziz;
- Romito, Antonio;
- Kampe, Kapil;
- Ferdinandusse, Sacha;
- Aboelanine, Ashraf H.;
- Abdullah, Amira;
- Alwadani, Amal;
- Bastaki, Laila;
- Vaz, Frédéric M.;
- Bertoli‐Avella, Aida M.;
- Marafi, Dana
Publication type:
Article
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.
Published in:
Cells (2073-4409), 2024, v. 13, n. 12, p. 1017, doi. 10.3390/cells13121017
By:
- Hjeij, Rim;
- Leslie, Joseph;
- Rizk, Hoda;
- Dworniczak, Bernd;
- Olbrich, Heike;
- Raidt, Johanna;
- Bode, Sebastian Felix Nepomuk;
- Gardham, Alice;
- Stals, Karen;
- Al-Haggar, Mohammad;
- Osman, Engy;
- Crosby, Andrew;
- Eldesoky, Tarek;
- Baple, Emma;
- Omran, Heymut
Publication type:
Article
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
Published in:
Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00149
By:
- Hsia, Gabriella S. P.;
- Musso, Camila M.;
- Alvizi, Lucas;
- Brito, Luciano A.;
- Kobayashi, Gerson S.;
- Pavanello, Rita C. M.;
- Zatz, Mayana;
- Gardham, Alice;
- Wakeling, Emma;
- Zechi-Ceide, Roseli M.;
- Bertola, Debora;
- Passos-Bueno, Maria Rita
Publication type:
Article
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Published in:
Ophthalmic Genetics, 2022, v. 43, n. 6, p. 809, doi. 10.1080/13816810.2022.2144905
By:
- Holt, Richard;
- Goudie, David;
- Verde, Alejandra Damián;
- Gardham, Alice;
- Ramond, Francis;
- Putoux, Audrey;
- Sarkar, Ajoy;
- Clowes, Virginia;
- Clayton-Smith, Jill;
- Banka, Siddharth;
- Cortazar Galarza, Laura;
- Thuret, Gilles;
- Ubeda Erviti, Marta;
- Zurutuza Ibarguren, Ane;
- Sáez Villaverde, Raquel;
- Tamayo Durán, Alejandra;
- Ayuso, Carmen;
- Bax, Dorine A;
- Plaisancie, Julie;
- Corton, Marta
Publication type:
Article
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36606-w
By:
- Bernkopf, Marie;
- Abdullah, Ummi B.;
- Bush, Stephen J.;
- Wood, Katherine A.;
- Ghaffari, Sahar;
- Giannoulatou, Eleni;
- Koelling, Nils;
- Maher, Geoffrey J.;
- Thibaut, Loïc M.;
- Williams, Jonathan;
- Blair, Edward M.;
- Kelly, Fiona Blanco;
- Bloss, Angela;
- Burkitt-Wright, Emma;
- Canham, Natalie;
- Deng, Alexander T.;
- Dixit, Abhijit;
- Eason, Jacqueline;
- Elmslie, Frances;
- Gardham, Alice
Publication type:
Article
Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP.
Published in:
EMBO Molecular Medicine, 2023, v. 15, n. 3, p. 1, doi. 10.15252/emmm.202216491
By:
- Perera, Luke A;
- Hattersley, Andrew T;
- Harding, Heather P;
- Wakeling, Matthew N;
- Flanagan, Sarah E;
- Mohsina, Ibrahim;
- Raza, Jamal;
- Gardham, Alice;
- Ron, David;
- De Franco, Elisa
Publication type:
Article
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Published in:
Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00012
By:
- Kumar, Raman;
- Palmer, Elizabeth;
- Gardner, Alison E.;
- Carroll, Renee;
- Banka, Siddharth;
- Abdelhadi, Ola;
- Donnai, Dian;
- Elgersma, Ype;
- Curry, Cynthia J.;
- Gardham, Alice;
- Suri, Mohnish;
- Malla, Rishikesh;
- Brady, Lauren Ilana;
- Tarnopolsky, Mark;
- Azmanov, Dimitar N.;
- Atkinson, Vanessa;
- Black, Michael;
- Baynam, Gareth;
- Dreyer, Lauren;
- Hayeems, Robin Z.
Publication type:
Article
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Published in:
Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab162
By:
- Jurkute, Neringa;
- Bertacchi, Michele;
- Arno, Gavin;
- Tocco, Chiara;
- Kim, Ungsoo Samuel;
- Kruszewski, Adam M.;
- Avery, Robert A.;
- Bedoukian, Emma C.;
- Jinu Han;
- Sung Jun Ahn;
- Pontikos, Nikolas;
- Acheson, James;
- Davagnanam, Indran;
- Bowman, Richard;
- Kaliakatsos, Marios;
- Gardham, Alice;
- Wakeling, Emma;
- Oluonye, Ngozi;
- Reddy, Maddy Ashwin;
- Clark, Elaine
Publication type:
Article