Publications by authors named "Rebecca Pollitt"

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Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic Variants in Two Patients.
Chloe Angwin, Angela F Brady, Marina Colombi, David J P Ferguson, Rebecca Pollitt

Genes (Basel)· September 2019

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Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Meena Balasubramanian, Nadja Fratzl-Zelman, Rory O'Sullivan, Mary Bull, Nicola Fa Peel, Rebecca C Pollitt

Am J Med Genet A· July 2018

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recurrent missense mutation causing Cole-Carpenter syndrome.
Meena Balasubramanian, Raja Padidela, Rebecca C Pollitt, Nicholas J Bishop, M Zulf Mughal

J Med Genet· March 2018

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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.
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Rebecca C Pollitt

Genet Med· January 2018

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Bilateral giant retinal tears in Osteogenesis Imperfecta.
Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile

BMC Med Genet· January 2018

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A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.
Lindsey C McVey, Avril Mason, Rebecca Pollitt, Syed Faisal Ahmed, Esther Kinning

Clin Dysmorphol· October 2017

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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.
Charlotte J Marshall, Paul Arundel, Talat Mushtaq, Amaka C Offiah, Rebecca C Pollitt

Am J Med Genet A· December 2016

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Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Rebecca C Pollitt, Vrinda Saraff, Ann Dalton, Emma A Webb, Nick J Shaw

Am J Med Genet A· December 2016

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A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
Charlotte Marshall, Jaime Lopez, Laura Crookes, Rebecca C Pollitt, Meena Balasubramanian

Gene· December 2016

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Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
Natasha S Stembridge, Anthony M Vandersteen, Neeti Ghali, Philip Sawle, Mandy Nesbitt, Rebecca C Pollitt

Am J Med Genet A· August 2015

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CRTAP mutation in a patient with Cole-Carpenter syndrome.
Meena Balasubramanian, Rebecca C Pollitt, Kate E Chandler, M Z Mughal, Michael J Parker

Am J Med Genet A· March 2015

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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.
Anthony M Vandersteen, Allan M Lund, David J P Ferguson, Philip Sawle, Rebecca C Pollitt

Am J Med Genet A· February 2014

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Type 1 collagenopathy presenting with a Russell-Silver phenotype.
Michael J Parker, Charulata Deshpande, Julia Rankin, Louise C Wilson, Meena Balasubramanian, Rebecca Pollitt

Am J Med Genet A· June 2011

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Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Rebecca Pollitt, Robert McMahon, Janice Nunn, Robert Bamford, Amal Afifi

Hum Mutat· July 2006

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