Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties
Balasubramanian, Meena, Fratzl‐Zelman, Nadja, O'Sullivan, Rory, Bull, Mary, FA Peel, Nicola, Pollitt, Rebecca C, Jones, Rebecca, Milne, Elizabeth, Smith, Kath, Roschger, Paul, Klaushofer, Klaus, Bishop, Nicholas J
Published in American journal of medical genetics. Part A (01.07.2018)
Published in American journal of medical genetics. Part A (01.07.2018)
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Journal Article
P4HB recurrent missense mutation causing Cole-Carpenter syndrome
Balasubramanian, Meena, Padidela, Raja, Pollitt, Rebecca C, Bishop, Nicholas J, Mughal, M Zulf, Offiah, Amaka C, Wagner, Bart E, McCaughey, Janine, Stephens, David J
Published in Journal of medical genetics (01.03.2018)
Published in Journal of medical genetics (01.03.2018)
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Journal Article
Bilateral giant retinal tears in Osteogenesis Imperfecta
Scollo, Paolo, Snead, Martin Paul, Richards, Allan James, Pollitt, Rebecca, DeVile, Catherine
Published in BMC medical genetics (12.01.2018)
Published in BMC medical genetics (12.01.2018)
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Journal Article
A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M., Brady, Angela F., Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S., Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y., Morton, Jenny E.V., Pilch, Jacek, Pollitt, Rebecca C., Schreiber, Gudrun, Shannon, Nora L., Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S., Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F. Michael, Bönnemann, Carsten G., Rohrbach, Marianne
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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Journal Article
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations
Pollitt, Rebecca C., Saraff, Vrinda, Dalton, Ann, Webb, Emma A., Shaw, Nick J., Sobey, Glenda J., Mughal, M. Zulf, Hobson, Emma, Ali, Farhan, Bishop, Nicholas J., Arundel, Paul, Högler, Wolfgang, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Journal Article
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta
Marshall, Charlotte J., Arundel, Paul, Mushtaq, Talat, Offiah, Amaka C., Pollitt, Rebecca C., Bishop, Nicholas J., Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Journal Article
CRTAP mutation in a patient with Cole-Carpenter syndrome
Balasubramanian, Meena, Pollitt, Rebecca C., Chandler, Kate E., Mughal, M. Z., Parker, Michael J., Dalton, Ann, Arundel, Paul, Offiah, Amaka C., Bishop, Nicholas J.
Published in American journal of medical genetics. Part A (01.03.2015)
Published in American journal of medical genetics. Part A (01.03.2015)
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Journal Article
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene
Stembridge, Natasha S., Vandersteen, Anthony M., Ghali, Neeti, Sawle, Philip, Nesbitt, Mandy, Pollitt, Rebecca C., Ferguson, David J. P., Holden, Simon, Elmslie, Frances, Henderson, Alex, Hulmes, David J. S., Pope, F.Michael
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
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Journal Article
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations
Vandersteen, Anthony M., Lund, Allan M., Ferguson, David J.P., Sawle, Philip, Pollitt, Rebecca C., Holder, Susan E., Wakeling, Emma, Moat, Neil, Pope, F. Michael
Published in American journal of medical genetics. Part A (01.02.2014)
Published in American journal of medical genetics. Part A (01.02.2014)
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Journal Article
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV
Pollitt, Rebecca, McMahon, Robert, Nunn, Janice, Bamford, Robert, Afifi, Amal, Bishop, Nicholas, Dalton, Ann
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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Journal Article
A novel COL1A1 mutation causing a variant of osteogenesis imperfecta
McVey, Lindsey C, Mason, Avril, Pollitt, Rebecca, Ahmed, Syed Faisal, Kinning, Esther
Published in Clinical dysmorphology (01.10.2017)
Published in Clinical dysmorphology (01.10.2017)
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Journal Article
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients
Angwin, Chloe, Brady, Angela F, Colombi, Marina, Ferguson, David J P, Pollitt, Rebecca, Pope, F Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S
Published in Genes (27.09.2019)
Published in Genes (27.09.2019)
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Journal Article
Type 1 collagenopathy presenting with a Russell–Silver phenotype
Parker, Michael J., Deshpande, Charulata, Rankin, Julia, Wilson, Louise C., Balasubramanian, Meena, Hall, Christine M., Wagner, Bart E., Pollitt, Rebecca, Dalton, Ann, Bishop, Nicholas J.
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Journal Article
P4HB recurrent missense mutation causing Cole-Carpenter syndrome: exploring the underlying mechanism
Balasubramanian, Meena, Padidela, Raja, Pollitt, Rebecca, Bishop, Nick, Mughal, Zulf, Offiah, Amaka, Wagner, Bart, McCaughey, Janine, Stephens, David
Published in Bone Abstracts (11.07.2017)
Published in Bone Abstracts (11.07.2017)
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Journal Article
Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases
Sithambaram, Sivagamy, Bishop, Nick, Shankar, Lata, Offiah, Amaka C, Pollitt, Rebecca C, Balasubramanian, Meena, Saggar, Anand K, Arundel, Paul
Published in Bone Abstracts (11.07.2017)
Published in Bone Abstracts (11.07.2017)
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Journal Article
NBAS variants causing a novel form of inherited bone fragility
Balasubramanian, Meena, Hurst, Jane, DeVile, Catherine, Bishop, Nick, Arundel, Paul, Offiah, Amaka, Pollitt, Rebecca, Hughes, David, Longman, Dasa, Caceres, Javier, Skerry, Tim
Published in Bone Abstracts (11.07.2017)
Published in Bone Abstracts (11.07.2017)
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Journal Article
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients
Angwin, Chloe, Brady, Angela F, Colombi, Marina, Ferguson, David J P, Pollitt, Rebecca, Pope, F Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S
Published in Genes (27.09.2019)
Published in Genes (27.09.2019)
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Type 1 collagenopathy presenting with a Russell-Silver phenotype
Parker, Michael J., Deshpande, Charulata, Rankin, Julia, Wilson, Louise C., Balasubramanian, Meena, Hall, Christine M., Wagner, Bart E., Pollitt, Rebecca, Dalton, Ann, Bishop, Nicholas J.
Published in American Journal of Medical Genetics Part A (01.06.2011)
Published in American Journal of Medical Genetics Part A (01.06.2011)
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