SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis
Tobias, Edward S., Lucas-Herald, Angela K., Sagar, Danielle, Montezano, Augusto C., Rios, Francisco J., De Lucca Camargo, Livia, Hamilton, Graham, Gazdagh, Gabriella, Diver, Louise A., Williams, Nicola, Herzyk, Pawel, Touyz, Rhian M., Greenfield, Andy, McGowan, Ruth, Ahmed, S. Faisal
Published in Endocrine (01.05.2024)
Published in Endocrine (01.05.2024)
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Journal Article
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
Kushary, Sulagna Tina, Revah‐Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle, McEntagart, Meriel, Pacio‐Míguez, Marta, Palomares‐Bralo, María, Pottinger, Carrie, Ruivenkamp, Claudia A. L., Sacco, Oliviero, Santen, Gijs W. E., Santos‐Simarro, Fernando, Scala, Marcello, Short, John, Sørensen, Kristina P., Woods, Christopher G., Anyane Yeboa, Kwame
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders
Gazdagh, Gabriella E, Wang, Cunyi, McGowan, Ruth, Tobias, Edward S, Ahmed, S Faisal
Published in Clinical dysmorphology (01.07.2019)
Published in Clinical dysmorphology (01.07.2019)
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Journal Article
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Mackay, Deborah J G, Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M, Kalish, Jennifer M, Maas, Saskia M, Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H, Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I, Õunap, Katrin, Riccio, Andrea, de Nanclares, Guiomar Perez, Maher, Eamonn R, Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet, Tümer, Zeynep
Published in Clinical epigenetics (01.08.2024)
Published in Clinical epigenetics (01.08.2024)
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Journal Article
Predictors of surgical complications in boys with hypospadias: data from an international registry
Scougall, Kathryn, Bryce, Jillian, Baronio, Federico, Boal, Rachel L, Castera, Jose Roberto, Castro, Sebastián, Cheetham, Tim, Costa, Eduardo Corrêa, Darendeliler, Feyza, Davies, Justin H, Dirlewanger, Mirjam, Gazdagh, Gabriella, Globa, Evgenia, Guerra-Junior, Gil, Guran, Tulay, Herrmann, Gloria, Holterhus, Paul-Martin, Akgül, Ahsen Karagözlü, Markosyan, Renata, McElreavey, Kenneth, Miranda, Marcio Lopes, Nordenstrom, Anna, O’Toole, Stuart, Poyrazoglu, Sukran, Russo, Gianni, Schwitzgebel, Valerie, Stancampiano, Marianna, Steigert, Michael, Ahmed, S Faisal, Lucas-Herald, Angela K
Published in World journal of pediatric surgery (01.10.2023)
Published in World journal of pediatric surgery (01.10.2023)
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Journal Article
A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene
Gazdagh, Gabriella, Mawby, Rebecca, Self, Jay E., Baralle, Diana
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Journal Article
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo
Bonnet, Maxime, Roche, Fiona, Fagotto-Kaufmann, Christine, Gazdagh, Gabriella, Truong, Iona, Comunale, Franck, Barbosa, Sonia, Bonhomme, Marion, Nafati, Nicolas, Hunt, David, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Shears, Deborah, Madruga, Marcos, Vansenne, Fleur, Curie, Aurore, Kajava, Andrey V., Baralle, Diana, Fassier, Coralie, Debant, Anne, Schmidt, Susanne
Published in Molecular psychiatry (01.04.2023)
Published in Molecular psychiatry (01.04.2023)
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Journal Article
A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction
Alhendi, Ahmed S. N., Gazdagh, Gabriella, Lim, Derek, McMullan, Dominic, Wright, Michael, Temple, I. Karen, Davies, Justin H., Mackay, Deborah J. G.
Published in American journal of medical genetics. Part A (01.02.2024)
Published in American journal of medical genetics. Part A (01.02.2024)
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Journal Article
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients
Gazdagh, Gabriella, Blyth, Moira, Scurr, Ingrid, Turnpenny, Peter D., Mehta, Sarju G., Armstrong, Ruth, McEntagart, Meriel, Newbury-Ecob, Ruth, Tobias, Edward S., Joss, Shelagh
Published in European journal of medical genetics (01.01.2019)
Published in European journal of medical genetics (01.01.2019)
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Journal Article
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
Gazdagh, Gabriella, Hunt, David, Gonzalez, Anna Maria Cueto, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Madruga, Marcos, Vansenne, Fleur, Shears, Deborah, Curie, Aurore, Stattin, Eva‐Lena, Anderlid, Britt‐Marie, Trajkova, Slavica, Angelovska, Elena Sukarova, McWilliam, Catherine, Wyatt, Philip R., O'Driscoll, Mary, Atton, Giles, Bergman, Anke K., Zacher, Pia, Mewasingh, Leena D., López, Antonio Gonzalez‐Meneses, Alonso‐Luengo, Olga, Wai, Htoo A., Rohde, Ottilie, Boiroux, Pauline, Debant, Anne, Schmidt, Susanne, Baralle, Diana
Published in American journal of medical genetics. Part A (01.07.2023)
Published in American journal of medical genetics. Part A (01.07.2023)
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Journal Article
PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development
Greenfield, Andy, Herzyk, Pawel, Lucas-Herald, Angela K, McGowan, Ruth, SGP, Scottish Genomes Partnership, Touyz, Rhian M, Williams, Nicola, Tobias, Edward S, Sagar, Danielle, Montezano, Augusto C, Rios, Francisco J, de Lucca Camargo, Livia, Hamilton, Graham, Gazdagh, Gabriella
Published in Journal of the Endocrine Society (01.11.2022)
Published in Journal of the Endocrine Society (01.11.2022)
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Journal Article
FILIP1 -associated neuromuscular disorder and phenotypic blending due to paternal UPD6
Watts, Laura M, Bunyan, David J, Giacopuzzi, Edoardo, Walker, Susan, Gazdagh, Gabriella, Thomas, N Simon, Straub, Volker, Childs, Anne-Marie, Forsyth, Joan, Vogt, Julie, Khan, Shagufta, Willis, Tracey A, Taylor, Jenny C, Pagnamenta, Alistair T
Published in Brain communications (2024)
Published in Brain communications (2024)
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Journal Article
Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study
Gazdagh, Gabriella, Tobias, Edward S., Ahmed, S. Faisal, McGowan, Ruth
Published in Sexual development (01.01.2016)
Published in Sexual development (01.01.2016)
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Journal Article
Predictors of surgical complications in boys with hypospadias: data from an internationa registry
Scougall, Kathryn, Bryce, Jillian, Baronio, Federico, Boal, Rachel L, Castera, Jose Roberto, Castro, Sebastián, Cheetham, Tim, Costa, Eduardo Corrêa, Darendeliler, Feyza, Davies, Justin H, Dirlewanger, Mirjam, Gazdagh, Gabriella, Globa, Evgenia, Guerra-Junior, Gil, Guran, Tulay, Herrmann, Gloria, Holterhus, Paul-Martin, Akgül, Ahsen Karagözlü, Markosyan, Renata, McElreavey, Kenneth, Miranda, Marcio Lopes, Nordenstrom, Anna, O'Toole, Stuart, Poyrazoglu, Sukran, Russo, Gianni, Schwitzgebel, Valerie, Stancampiano, Marianna, Steigert, Michael, Ahmed, S Faisal, Lucas-Herald, Angela K
Published in World journal of pediatric surgery (2023)
Published in World journal of pediatric surgery (2023)
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Journal Article
A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene
Gazdagh, Gabriella, Mawby, Rebecca, Self, Jay E, Baralle, Diana
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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