Search Results - "Read, A P"

Waardenburg syndrome by Read, A P, Newton, V E

“…Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly…”
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Apparent prevention of neural tube defects by periconceptional vitamin supplementation by Smithells, RW, Sheppard, S, Schorah, CJ, Seller, MJ, Nevin, NC, Harris, R, Read, AP, Fielding, DW

“…An earlier preliminary paper is expanded. Women who had given birth to one or more infants with a neural tube defect were recruited into a trial of…”
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SOX10 mutations in patients with Waardenburg-Hirschsprung disease by Pingault, Véronique, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Goerich, Derk E, Read, Andrew P, Wegner, Michael, Herbarth, Beate, Goossens, Michel, Kuhlbrodt, Kirsten, Matthijs, Gert, Ceccherini, Isabella, Smith, Jill Clayton, Bondurand, Nadège, Amiel, Jeanne, Romeo, Giovanni, Lyonnet, Stanislas, Préhu, Marie-Odette, Legius, Eric

“…Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's disease (HSCR; aganglionic megacolon) are congenital disorders caused by…”
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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis by James, Jacqueline, Davies, Robin, Read, Andrew P, Roberts, Emma, Woods, C. Geoffrey, Wood, A. Joseph, McCormick, Derek, Hewitt, Chelsee, Ghaffar, Khaled Abdul, Thakker, Nalin S, Widmer, Richard, Wong, Melanie, Sloan, Philip, Lench, Nicholas, Hussein, Ibtessam Ramzy, Pemberton, Michael, Dixon, Michael J, Markham, Alexander, Temtamy, Samia A, Wu, Chu Lee, Toomes, Carmel, Moynihan, Leanne

“…Papillon-Lefèvre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained…”
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Mutations in PAX1 may be associated with Klippel-Feil syndrome by MCGAUGHRAN, J. M, OATES, A, DONNAI, D, READ, A. P, TASSABEHJI, M

“…Pax genes are a highly conserved family of developmental control genes that encode transcription factors. In vertebrates, Pax genes play a role in pattern…”
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A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies by Bondurand, Nadège, Kuhlbrodt, Kirsten, Pingault, Véronique, Enderich, Janna, Sajus, Marc, Tommerup, Niels, Warburg, Mette, Hennekam, Raoul C. M., Read, Andrew P., Wegner, Michael, Goossens, Michel

“…The Yemenite deaf-blind hypopigmentation syndrome was first observed in a Yemenite sister and brother showing cutaneous hypopigmented and hyperpigmented spots…”
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Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes by Tassabehji, Mayada, Metcalfe, Kay, Karmiloff-Smith, Annette, Carette, Martin J., Grant, Julia, Dennis, Nick, Reardon, W., Splitt, Miranda, Read, Andrew P., Donnai, Dian

“…In Williams syndrome (WS), a deletion of ∼1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular…”
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Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome by Karmiloff-Smith, A, Grant, J, Ewing, S, Carette, M J, Metcalfe, K, Donnai, D, Read, A P, Tassabehji, M

“…[...]case 2 is not our only patient with a LIMK1 deletion but no WBS cognitive profile; we have previously described two others. 5 Thus, we doubt that case 2…”
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The costs of intersexuality: a crustacean perspective by FORD, A. T, FERNANDES, T. F, READ, P. A, ROBINSON, C. D, DAVIES, I. M

“…Increasing concerns over rising intersexuality in the animal kingdom and the ability of certain chemicals to disrupt the endocrine system have demanded a…”
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Abnormal gonadal morphology in intersex, Echinogammarus marinus (Amphipoda): a possible cause of reduced fecundity? by Ford, A. T, Rodgers-Gray, T. P, Davies, I. M, Dunn, A. M, Read, P. A, Robinson, C. D, Smith, J. E, Fernandes, T. F

“…Recent reports have demonstrated a cost associated with intersexuality in Amphipoda, including reduced fecundity and fertility. In this study, the gross…”
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The mutational spectrum in Waardenburg syndrome by Tassabehji, M, Newton, V E, Liu, X Z, Brady, A, Donnai, D, Krajewska-Walasek, M, Murday, V, Norman, A, Obersztyn, E, Reardon, W

“…One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such as Waardenburg syndrome (WS) or probable neurocristopathies were…”
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Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macrophages by Smith, S. J., Rucka, A. K., Berry, J. L., Davies, M., Mylchreest, S., Paterson, C. R., Heath, D. A., Tassabehji, M., Read, A. P., Mee, A. P., Mawer, E. B.

“…Pseudovitamin D–defiency rickets (PDDR) is an autosomal recessive disorder characterized by hypocalcemia, rickets (which are resistant to treatment with…”
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An Elastin Gene Mutation Producing Abnormal Tropoelastin and Abnormal Elastic Fibres in a Patient with Autosomal Dominant Cutis Laxa by Tassabehji, Mayada, Metcalfe, Kay, Hurst, Jane, Ashcroft, Gillian S., Kielty, Cay, Wilmot, Carrie, Donnai, Dian, Read, Andrew P., Jones, Carolyn J. P.

“…Elastin is the protein responsible for the characteristic elastic properties of many tissues including the skin, lungs and large blood vessels…”
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Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis by Tassabehji, Mayada, Metcalfe, Kay, Donnai, Dian, Hurst, Jane, Reardon, William, Burch, Michael, Read, Andrew P.

“…We describe the complete exon-intron structure of the human elastin (ELN) gene located at chromosome 7q11.23. There are 34 exons occupying ∼47 kb of genomic…”
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Brachydactyly and mental retardation : an albright hereditary osteodystrophy-like syndrome localized to 2q37 by WILSON, L. C, LEVERTON, K, TREMBATH, R. C, OUDE LUTTIKHUIS, M. E. M, OLEY, C. A, FLINT, J, WOLSTENHOLME, J, DUCKETT, D. P, BARROW, M. A, LEONARD, J. V, READ, A. P

“…We report five patients with a combination of brachymetaphalangia and mental retardation, similar to that observed in Albright hereditary osteodystrophy (AHO)…”
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Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study by Hewitt, C., Wu, C‐L., Hattab, F.N., Amin, W., Ghaffar, K.A., Toomes, C., Sloan, P., Read, A.P., James, J.A., Thakker, N.S.

“…Summary The co‐occurrence of two rare recessive genetic conditions in apparently unrelated individuals or families is extremely rare. Two geographically…”
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Dynamic changes in arousal threshold during sleep in the human infant by READ, P. A, HORNE, R. S. C, CRANAGE, S. M, WALKER, A. M, WALKER, D. W, ADAMSON, T. M

“…Failure to arouse from sleep is a possible mechanism leading to sudden infant death. Using a controlled pulsatile air jet applied alternately to the nostrils…”
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Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP) by Rowe, Peter S. N., Oudet, Claudine L., Francis, Fiona, Sinding, Christiane, Pannetier, Solange, Econs, Mike J., Strom, Tim M., Meitinger, Thomas, Garabedian, Michele, David, Albert, Macher, Marie-Alice, Questiaux, Elisabeth, Popowska, Ewa, Pronicka, Ewa, Read, Andrew P., Mokrzycki, Agnes, Glorieux, Francis H., Drezner, Marc K., Hanauer, Andre, Lehrach, Hans, Goulding, Johnathan N., O'Riordan, Jeffrey L. H.

“…Mutations in the PEXgene at Xp22.1 (phosphate-regulating gene with homologies to endopeptidases, on the X-chromosome), are responsible for X-linked…”
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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse by Tassabehji, M, Newton, V E, Leverton, K, Turnbull, K, Seemanova, E, Kunze, J, Sperling, K, Strachan, T, Read, A P

“…The human PAX3 gene contains a paired box and a paired-type homeobox, and is believed to play a role in pattern formation in the embryo. We describe the…”
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The recovery of populations of dogwhelks suffering from imposex in the Firth of Forth 1987–1997/98 by Miller, K.L, Fernandes, T.F, Read, P.A

“…The impact of tributyltin (TBT) contamination on dogwhelk (Nucella lapillus) populations was assessed at 33 sites in the Firth of Forth, UK, during spring 1997…”
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