Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
Nikolopoulos, Georgios, Smith, Claire E. L., Poulter, James A., Murillo, Gina, Silva, Sandra, Lamb, Teresa, Berry, Ian R., Brown, Catriona J., Day, Peter F., Soldani, Francesca, Al‐Bahlani, Suhaila, Harris, Sarah A., O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.
Published in Human mutation (01.05.2021)
Published in Human mutation (01.05.2021)
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Smith, Claire E L, Laugel-Haushalter, Virginie, Hany, Ummey, Best, Sunayna, Taylor, Rachel L, Poulter, James A, Wortmann, Saskia B, Feichtinger, Rene G, Mayr, Johannes A, Al Bahlani, Suhaila, Nikolopoulos, Georgios, Rigby, Alice, Black, Graeme C, Watson, Christopher M, Mansour, Sahar, Inglehearn, Chris F, Mighell, Alan J, Bloch-Zupan, Agnès, McKibbin, Martin, Ali, Manir, Toomes, Carmel, Ingram, Stuart, Manson, Forbes, Sergouniotis, Panagiotis, Arno, Gavin, Hardcastle, Alison J, Webster, Andrew, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, Heyningen, Veronica van, Ambrose, John C, Arumugam, Prahbu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Chris R, Brittain, Helen K, Brown, Matthew A, Caulfield, Mark J, Chan, Georgia C, Giess, Adam, Griffin, John N, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim JP, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna Louise, Leigh, Sarah EA, Leong, Ivonne US, Lopez, Javier F, Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, J, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O‘Donovan, Peter, Odhams, Chris A, Patch, Christine, Perez-Gil, Daniel, Pereira, Marianna Buongermino, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen RA, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M, Zarowiecki, Magdalena
Published in Journal of medical genetics (01.07.2024)
Published in Journal of medical genetics (01.07.2024)
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Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta
El-Sayed, Walid, Parry, David A., Shore, Roger C., Ahmed, Mushtaq, Jafri, Hussain, Rashid, Yasmin, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Difficult intubation management in a child with I-cell disease
M Mahfouz, Abdul Kader, George, G, Al-Bahlani, Suhaila S, Al Nabhani, Mohamed Z
Published in Saudi journal of anaesthesia (01.05.2010)
Published in Saudi journal of anaesthesia (01.05.2010)
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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P. Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert
Published in Nephron (01.04.2013)
Published in Nephron (01.04.2013)
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Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Parry, David A., Brookes, Steven J., Logan, Clare V., Poulter, James A., El-Sayed, Walid, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Sayed, Jihad, Raïf, El Mostafa, Shore, Roger C., Dashash, Mayssoon, Barron, Martin, Morgan, Joanne E., Carr, Ian M., Taylor, Graham R., Johnson, Colin A., Aldred, Michael J., Dixon, Michael J., Wright, J. Tim, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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Journal Article
Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with MMP20
Nikolopoulos, Georgios, Smith, Claire E L, Poulter, James A, Murillo, Gina, Silva, Sandra, Brown, Catriona J, Day, Peter F, Soldani, Francesca, Al-Bahlani, Suhaila, Harris, Sarah A, O'connell, Mary J, Inglehearn, Chris F, Mighell, Alan J
Published in bioRxiv (24.07.2020)
Published in bioRxiv (24.07.2020)
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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
JAUREGUIBERRY, Graciana, DE LA DURE-MOLLA, Muriel, PATEL, Vaksha, FIGUERES, Marie-Lucile, STANESCU, Horia C, ISSLER, Naomi, NICHOLSON, Jeremy K, BOCKENHAUER, Detlef, LAING, Christopher, WALSH, Stephen B, MCCREDIE, David A, POVEY, Sue, PARRY, David, ASSELIN, Audrey, PICARD, Arnaud, COULOMB, Aurore, MEDLAR, Alan J, BAILLEUL-FORESTIER, Isabelle, VERLOES, Alain, LE CAIGNEC, Cedric, ROUSSEY, Gwenaelle, GUIOL, Julien, ISIDOR, Bertrand, QUENTRIC, Mickael, LOGAN, Clare, SHORE, Roger, JOHNSON, Colin, INGLEHEARN, Christopher, AL-BAHLANI, Suhaila, SCHMITTBUHL, Matthieu, CLAUSS, François, HUCKERT, Mathilde, LAUGEL, Virginie, GINGLINGER, Emmanuelle, HIMMERKUS, Nina, PAJAROLA, Sandra, SPARTA, Giuseppina, BARTHOLDI, Deborah, RAUCH, Anita, ADDOR, Marie-Claude, YAMAGUTI, Paulo M, SAFATLE, Heloisa P, ACEVEDO, Ana Carolina, MARTELLI-JUNIOR, Hercílio, DOS SANTOS NETOS, Pedro E, KOIKE, Toshiyasu, COLETTA, Ricardo D, GRUESSEL, Sandra, SANDMANN, Carolin, RUEHMANN, Denise, LANGMAN, Craig B, SCHEINMAN, Steven J, OZDEMIR-OZENEN, Didem, HART, Thomas C, SUZANNE HART, P, NEUGEBAUER, Ute, POULTER, James, KLOOTWIJK, Enriko, ROBINETTE, Steven L, HOWIE, Alexander J
Published in Nephron (2015) (2012)
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Published in Nephron (2015) (2012)
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