Search Results - "Chandler, K. E."

Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q by Dixit, A, Chandler, K. E, Lever, M, Poole, R. L, Bullman, H, Mughal, M. Z, Steggall, M, Suri, M

“…Context: Pseudohypoparathyroidism type 1b (PHP1b) is the result of end-organ resistance to PTH and other hormones such as TSH in the absence of any features of…”
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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome by Chandler, K E, Kidd, A, Al-Gazali, L, Kolehmainen, J, Lehesjoki, A-E, Black, G C M, Clayton-Smith, J

“…Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the…”
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MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome by Banka, S, Howard, E, Bunstone, S, Chandler, KE, Kerr, B, Lachlan, K, McKee, S, Mehta, SG, Tavares, ALT, Tolmie, J, Donnai, D

“…Kabuki syndrome (KS) is a rare multi‐system disorder that can result in a variety of congenital malformations, typical dysmorphism and variable learning…”
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Age and causes of death in adult-onset myotonic dystrophy by DE DIE-SMULDERS, C. E. M, HÖWELER, C. J, THIJS, C, MIRANDOLLE, J. F, ANTEN, H. B, SMEETS, H. J. M, CHANDLER, K. E, GERAEDTS, J. P. M

“…Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications. Long term follow-up is difficult…”
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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome by Balikova, I, Lehesjoki, A.E, de Ravel, T.J.L, Thienpont, B, Chandler, K.E, Clayton-Smith, J, Träskelin, A.L, Fryns, J.P, Vermeesch, J.R

“…Cohen syndrome is an autosomal recessive disorder that is characterized by mental retardation, facial dysmorphism, microcephaly, retinal dystrophy, truncal…”
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The ophthalmic findings in Cohen syndrome by Chandler, K E, Biswas, S, Lloyd, I C, Parry, N, Clayton-Smith, J, Black, G C M

“…Aim: Cohen syndrome is an uncommon autosomal recessive condition comprising a characteristic facial appearance, mental retardation, benign neutropenia, and…”
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Long-term outcome of Cavalier King Charles spaniel dogs with clinical signs associated with Chiari-like malformation and syringomyelia by Plessas, I. N., Rusbridge, C., Driver, C. J., Chandler, K. E., Craig, A., McGonnell, I. M., Brodbelt, D. C., Volk, H. A.

“…The disease complex Chiari-like malformation (CM) and syringomyelia (SM) has been associated with the development of neuropathic pain (NeP), and commonly…”
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Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling by Hanson, D, Murray, P G, Coulson, T, Sud, A, Omokanye, A, Stratta, E, Sakhinia, F, Bonshek, C, Wilson, L C, Wakeling, E, Temtamy, S A, Aglan, M, Rosser, E M, Mansour, S, Carcavilla, A, Nampoothiri, S, Khan, W I, Banerjee, I, Chandler, K E, Black, G C M, Clayton, P E

“…3-M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. 3-M patients typically have a modest response to GH treatment, but…”
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Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia by Bassett, J.K, Chandler, K.E, Douzgou, S

“…Abstract Chromosome 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal…”
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Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16 by Chandler, K. E., Del Rio, A., Rakshi, K., Springell, K., Williams, D. K., Stoodley, N., Woods, C. G., Pilz, D. T.

“…We report three related and one unrelated child with an apparently novel neurodevelopmental disorder. The clinical course was very similar in all the four…”
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Neuropsychological assessment of a group of UK patients with Cohen syndrome by Chandler, K E, Moffett, M, Clayton-Smith, J, Baker, G A

“…Cohen syndrome is a rare autosomal recessive syndrome with a distinctive clinical phenotype that includes mental retardation and a characteristic sociable…”
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A movement disorder in boxer pups by Ramsey, I. K., Chandler, K E., Franklin, R. J. M.

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Regulation and role of REST and REST4 variants in modulation of gene expression in in vivo and in vitro in epilepsy models by Spencer, E.M., Chandler, K.E., Haddley, K., Howard, M.R., Hughes, D., Belyaev, N.D., Coulson, J.M., Stewart, J.P., Buckley, N.J., Kipar, A., Walker, M.C., Quinn, J.P.

“…Repressor element-1 silencing transcription factor (REST) is a candidate modulator of gene expression during status epilepticus in the rodent. In such models,…”
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Seizure-Like Episodes in 3 Cats with Intermittent High-Grade Atrioventricular Dysfunction by Penning, V.A, Connolly, D.J, Gajanayake, I, McMahon, L.A, Luis Fuentes, V, Chandler, K.E, Volk, H.A

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Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion by CHANDLER, K. E, DE DIE-SMULDERS, C. E. M, ENGELEN, J. J. M, SCHRANDER, J. J. P

“…Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome),…”
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Laparoscopic cholecystectomy in biliary pancreatitis by Graham, L D, Burrus, R G, Burns, R P, Chandler, K E, Barker, D E

“…Laparoscopic cholecystectomy has emerged as the treatment of choice for uncomplicated cholelithiasis. Despite early concerns, many surgeons have applied this…”
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Safety, efficacy, cost, and morbidity of laparoscopic versus open cholecystectomy: a prospective analysis of 228 consecutive patients by Kelley, J E, Burrus, R G, Burns, R P, Graham, L D, Chandler, K E

“…Laparoscopic cholecystectomy has become the procedure of choice in most hospitals for the resolution of surgically treatable gallbladder disease. Few reports…”
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Portosystemic shunt associated with severe episodic weakness by Wessmann, A, Volk, H.A, Shelton, G.D, Chandler, K.E, Baines, S, Cappello, R

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Does a Jewish type of Cohen syndrome truly exist? by Chandler, K.E., Clayton-Smith, Jill

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Laparoscopic hernia repair: a preliminary report by Sailors, D M, Layman, T S, Burns, R P, Chandler, K E, Russell, W L

“…Advances in laparoscopic technique have provided the opportunity to perform preperitoneal herniorrhaphy and potentially avoid the morbidity associated with…”
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