Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era
Sabir, Ataf H, Morley, Elizabeth, Sheikh, Jameela, Calder, Alistair D, Beleza-Meireles, Ana, Cheung, Moira S, Cocca, Alessandra, Jansson, Mattias, Lillis, Suzanne, Patel, Yogen, Yau, Shu, Hall, Christine M, Offiah, Amaka C, Irving, Melita
Published in BMC medical genomics (06.06.2021)
Published in BMC medical genomics (06.06.2021)
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Sexual dimorphism and sexual selection in cytheroidean ostracodes from the Late Cretaceous of the U.S. Coastal Plain
Hunt, Gene, Martins, M. João Fernandes, Puckett, T. Markham, Lockwood, Rowan, Swaddle, John P, Hall, Christine M. S, Stedman, James
Published in Paleobiology (01.11.2017)
Published in Paleobiology (01.11.2017)
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Journal Article
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
Mitsui, Toshikatsu, Kim, Ok-Hwa, Hall, Christine M., Offiah, Amaka, Johnson, Diana, Jin, Dong-Kyu, Toh, Teck-Hock, Soneda, Shun, Keino, Dai, Matsubayashi, Shohei, Ishii, Tomohiro, Nishimura, Gen, Hasegawa, Tomonobu
Published in American journal of medical genetics. Part A (01.10.2014)
Published in American journal of medical genetics. Part A (01.10.2014)
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Journal Article
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
Rossi, Massimiliano, Hall, Christine M., Bouvier, Raymonde, Collardeau-Frachon, Sophie, Le Breton, Frédérique, Bucourt, Martine, Cordier, Marie Pierre, Vianey-Saban, Christine, Parenti, Giancarlo, Andria, Generoso, Le Merrer, Martine, Edery, Patrick, Offiah, Amaka C.
Published in Pediatric radiology (01.07.2015)
Published in Pediatric radiology (01.07.2015)
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Journal Article
Clinical phenotype of lathosterolosis
Rossi, Massimiliano, D'Armiento, Maria, Parisi, Ida, Ferrari, Paola, Hall, Christine M., Cervasio, Mariarosaria, Rivasi, Francesco, Balli, Fiorella, Vecchione, Raffaella, Corso, Gaetano, Andria, Generoso, Parenti, Giancarlo
Published in American journal of medical genetics. Part A (15.10.2007)
Published in American journal of medical genetics. Part A (15.10.2007)
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Journal Article
Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia
Hall, Christine M., Liu, Becky, Haworth, Andrea, Reed, Laura, Pryce, Jeremy, Mansour, Sahar
Published in European journal of medical genetics (01.03.2021)
Published in European journal of medical genetics (01.03.2021)
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Journal Article
RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley–Bixler syndrome should not be confused
Richards, C., Hall, Christine M., Johnson, D., Offiah, Amaka C.
Published in Pediatric radiology (01.08.2018)
Published in Pediatric radiology (01.08.2018)
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Journal Article
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert R., Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Offiah, Amaka, Wright, Michael J., Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C., Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D.
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
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Journal Article
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
MANSOUR, Sahar, SWINKELS, Marielle, TERHAL, Paulien A, WILSON, Louise C, RICH, Philip, VAN MALDERGEM, Lionel, ZWIJNENBURG, Petra Jg, HALL, Christine M, ROBERTSON, Stephen P, NEWBURY-ECOB, Ruth
Published in European journal of human genetics : EJHG (01.10.2012)
Published in European journal of human genetics : EJHG (01.10.2012)
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Journal Article
Chondrodysplasia punctata: a clinical diagnostic and radiological review
Irving, Melita D, Chitty, Lyn S, Mansour, Sahar, Hall, Christine M
Published in Clinical dysmorphology (01.10.2008)
Published in Clinical dysmorphology (01.10.2008)
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Journal Article
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene
Sellick, Gabrielle S, Hoornaert, Kristein P, Mortier, Geert R, King, Catherine, Dolling, Claire L, Newbury-Ecob, Ruth A, Gargan, Martin, Hall, Christine M, Houlston, Richard S, Smithson, Sarah F
Published in Clinical dysmorphology (01.10.2006)
Published in Clinical dysmorphology (01.10.2006)
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Journal Article
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH
Collinson, Morag, Leonard, Samantha J., Charlton, Jocelyn, Crolla, John A., Silve, Caroline, Hall, Christine M., Oglivie, Colin, James, Margaret A., Smithson, Sarah F.
Published in American journal of medical genetics. Part A (01.12.2010)
Published in American journal of medical genetics. Part A (01.12.2010)
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Journal Article
Treatment of postpartum depression in mothers: Secondary benefits to the infants
Goodman, Sherryl H., Broth, Michelle R., Hall, Christine M., Stowe, Zachary N.
Published in Infant mental health journal (01.09.2008)
Published in Infant mental health journal (01.09.2008)
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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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