Diana Baralle - Dissemin

Papers authored by Diana Baralle

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2005 Jacquelyn Bond, Emma Roberts, Kelly Springell, Sophia Lizarraga, Sheila Scott, Julie Higgins, Daniel J. Hampshire, Ewan E. Morrison, Gabriella F. Leal, G. briella F. Leal, Elias O. Silva, Suzana M. R. Costa, Diana Baralle

, Michela Raponi, Gulshan Karbani and 7 other authors

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

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2004 Jill Yardley, Bart P. Leroy, Niki Hart-Holden, Bart A. Lafaut, Bart Loeys, Ludwine M. Messiaen, Rahat Perveen, M. Ashwin Reddy, Shomi S. Bhattacharya, Elias Traboulsi, Diana Baralle

, Jean-Jacques De Laey, Bernard Puech, Philippe Kestelyn, Anthony T. Moore and 2 other authors

Mutations ofVMD2Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

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P. Tarpey, C. ffrench-Constant, J. Whittaker, D. Baralle

, C. Mattocks, M. Bobrow

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

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2003 Diana Baralle

, Chris Mattocks, Kamini Kalidas, Frances Elmslie, Joanne Whittaker, Melissa Lees, Nicola Ragge, Michael A. Patton, Robin M. Winter, Charles ffrench-Constant

Different mutations in theNF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS)

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

M. Baralle, D. Baralle

, L. De Conti, C. Mattocks, J. Whittaker, A. Knezevich, C. Ffrench-Constant, F. E. Baralle

Identification of a mutation that perturbs NF1 gene splicing using genomic DNA samples and a minigene assay [6]

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2002 C. ffrench-Constant, D. Trump, C. Ffrench Constant, D. J . Dick, D. Baralle

Myoclonic movement disorder associated with microdeletion of chromosome 22q11

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2001 Diana Baralle

Chromosomal aberrations, subtelomeric defects, and mental retardation

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2000 D. Baralle

, L. R. Willatt, D. J. Shears

Léri‐Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X‐inactivation: Implications for genetic counselling

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A. M. Dearlove, R. Beach, C. Ffrench-Constant, E. Reid, D. Baralle

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity

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Diana Baralle

, Helen Firth

A case of the new overgrowth syndrome - macrocephaly with cutis marmorata, haemangioma and syndactyly:

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D. Baralle

, L. R. Willatt, D. J. Shears

L�ri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: Implications for genetic counselling

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1999 Diana Baralle

, Helen Firth

Craniomicromelic syndrome: Report of a third case

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1994 M. Rees, D. Curtis, K. Parker, A. Sundqvist, I. N. Bespalova, M. Burmeister, Diana Baralle

, E. Chung, R. M. Gardiner, W. P. Whitehouse

Linkage Analysis of Idiopathic Generalised Epilepsy in Families of Probands with Juvenile Myoclonic Epilepsy and Marker Loci in the Region of EPM 1 on Chromosome 21 q: Unverricht-Lundborg Disease and JME are not Allelic Variants

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1993 W. P. Whitehouse, M. Rees, D. Curtis, A. Sundqvist, K. Parker, E. Chung, Diana Baralle

, R. M. Gardiner

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

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1970 Diana Baralle

Molecular pathology of neurofibromatosis type 1 (NFI).

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Papers authored by Diana Baralle