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1. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Author

Polla, D. L., Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A. T. Vulto-van, Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., Wennekes, R., Stegmann, A. P. A., Reardon, W., Leenders, E. K. S. M., de Vries, B. B. A., Li, D., Zackai, E., Ragge, N., Lynch, S. A., Cuddapah, S., van Bokhoven, H., Zweier, C., and de Brouwer, A. P. M.

Published
2021
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4. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Author

Polla, D.L., Bhoj, E.J., Verheij, J., Wassink-Ruiter, J.S., Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A.T., Pfundt, R.P., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., Vries, B.B.A. de, Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., Bokhoven, H. van, Zweier, C., Brouwer, A.P.M. de, Polla, D.L., Bhoj, E.J., Verheij, J., Wassink-Ruiter, J.S., Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A.T., Pfundt, R.P., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., Vries, B.B.A. de, Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., Bokhoven, H. van, Zweier, C., and Brouwer, A.P.M. de

Abstract

Contains fulltext : 234992.pdf (Publisher’s version ) (Closed access), PURPOSE: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie the variable phenotypes in males carrying missense variants in MED12, including X-linked recessive Ohdo, Lujan, and FG syndromes. METHODS: By international matchmaking we assembled variant and clinical data on 18 females presenting with variable neurodevelopmental disorders (NDDs) and harboring de novo variants in MED12. RESULTS: Five nonsense variants clustered in the C-terminal region, two splice variants were found in the same exon 8 splice acceptor site, and 11 missense variants were distributed over the gene/protein. Protein truncating variants were associated with a severe, syndromic phenotype consisting of intellectual disability (ID), facial dysmorphism, short stature, skeletal abnormalities, feeding difficulties, and variable other abnormalities. De novo missense variants were associated with a less specific, but homogeneous phenotype including severe ID, autistic features, limited speech and variable other anomalies, overlapping both with females with truncating variants as well as males with missense variants. CONCLUSION: We establish de novo truncating variants in MED12 as causative for a distinct NDD and de novo missense variants as causative for a severe, less specific NDD in females.

Published
2021

5. Integrity of nuclear genomic deoxyribonucleic acid in cooked meat: implications for food traceability

Author

Aslan, O., Hamill, R.M., Sweeney, T., Reardon, W., and Mullen, A.M.

Subjects
DNA -- Nutritional aspects, Meat -- Genetic aspects, Zoology and wildlife conservation
Abstract

It is essential to isolate high-quality DNA from muscle tissue for PCR-based applications in traceability of animal origin. We wished to examine the impact of cooking meat to a range of core temperatures on the quality and quantity of subsequently isolated genomic (specifically, nuclear) DNA. Triplicate steak samples were cooked in a water bath (100[degrees]C) until their final internal temperature was 75, 80, 85, 90, 95, or 100[degrees]C, and DNA was extracted. Deoxyribonucleic acid quantity was significantly reduced in cooked meat samples compared with raw (6.5 vs. 56.6 ng/[micro]L; P < 0.001), but there was no relationship with cooking temperature. Quality ([A.sub.260]/[A.sub.289], i.e., absorbance at 260 and 280 nm) was also affected by cooking (P < 0.001). For all 3 genes, large PCR amplicons (product size >800 bp) were observed only when using DNA from raw meat and steak cooked to lower core temperatures. Small amplicons ( Key words: cooked meat, deoxyribonucleic acid, food authentication, traceability

Published
2009

8. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Author

Makrythanasis, P, van Bon, B W, Steehouwer, M, Rodríguez-Santiago, B, Simpson, M, Dias, P, Anderlid, B M, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, E MHF, del Campo, M, Cordeiro, I, Cueto-González, A M, Cuscó, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R, Galán, E, Gener, B, Gilissen, C, Granneman, S M, Hoyer, J, Yntema, H G, Kets, C M, Koolen, D A, Marcelis, C L, Medeira, A, Micale, L, Mohammed, S, de Munnik, S A, Nordgren, A, Psoni, S, Reardon, W, Revencu, N, Roscioli, T, Ruiterkamp-Versteeg, M, Santos, H G, Schoumans, J, Schuurs-Hoeijmakers, J HM, Silengo, M C, Toledo, L, Vendrell, T, van der Burgt, I, van Lier, B, Zweier, C, Reymond, A, Trembath, R C, Perez-Jurado, L, Dupont, J, de Vries, B BA, Brunner, H G, Veltman, J A, Merla, G, Antonarakis, S E, and Hoischen, A

Published
2013
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9. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Author

Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Huang, S., de Ravel, T., Norga, K., Mercer, C., Collins, A., Baralle, D., Crolia, J., Maloney, V., Devriendt, K., Bongers, E., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Mehta, S., Park, S., Simonic, I., Clayton-Smoth, J., Gaunt, L., Male, A., Hennekam, R., Nik-Zainal, S., Woods, C., Firth, H., Parkin, G., Fichera, M., Reitano, S., Schwerzmann, M., Conrad, B., Broomer, A., Casuga, I., Li, K., and Lo Guidice, M.

Subjects
Human chromosomes -- Research, Human genome -- Research, Human genome -- Health aspects, Phenotype -- Research
Abstract

A study was conducted to determine the effects of duplications or deletions in the human genome that could be a cause or predispose an individual to disease. Results revealed that recurrent molecular lesions when noticed should be further investigated on the basis of genotype rather than phenotype.

Published
2008

10. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Author

Polla, DL, Bhoj, EJ, Verheij, JBGM, Klein Wassink-Ruiter, JS, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Vulto-van Silfhout, AT, Pfundt, R, Bongers, EMHF, Hakonarson, H, Berland, S, Gradek, G, Banka, S, Chandler, K, Gompertz, L, Huffels, SC, Stumpel, CTRM, Wennekes, R, Stegmann, APA, Reardon, W, Leenders, EKSM, de Vries, BBA, Li D, Zackai, E, Ragge, Nicole, Lynch, SA, Cuddapah, S, van Bokhoven, H, Zweier, C, de Brouwer, APM, Polla, DL, Bhoj, EJ, Verheij, JBGM, Klein Wassink-Ruiter, JS, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Vulto-van Silfhout, AT, Pfundt, R, Bongers, EMHF, Hakonarson, H, Berland, S, Gradek, G, Banka, S, Chandler, K, Gompertz, L, Huffels, SC, Stumpel, CTRM, Wennekes, R, Stegmann, APA, Reardon, W, Leenders, EKSM, de Vries, BBA, Li D, Zackai, E, Ragge, Nicole, Lynch, SA, Cuddapah, S, van Bokhoven, H, Zweier, C, and de Brouwer, APM

Abstract

Purpose. MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie the variable phenotypes in males carrying missense variants in MED12, including X-linked recessive Ohdo, Lujan, and FG syndromes. Methods. By international matchmaking we assembled variant and clinical data on 18 females presenting with variable neurodevelopmental disorders (NDDs) and harboring de novo variants in MED12. Results. Five nonsense variants clustered in the C-terminal region, two splice variants were found in the same exon 8 splice acceptor site, and 11 missense variants were distributed over the gene/protein. Protein truncating variants were associated with a severe, syndromic phenotype consisting of intellectual disability (ID), facial dysmorphism, short stature, skeletal abnormalities, feeding difficulties, and variable other abnormalities. De novo missense variants were associated with a less specific, but homogeneous phenotype including severe ID, autistic features, limited speech and variable other anomalies, overlapping both with females with truncating variants as well as males with missense variants. Conclusion. We establish de novo truncating variants in MED12 as causative for a distinct NDD and de novo missense variants as causative for a severe, less specific NDD in females.

Published
2020

11. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness

Author

Astuto, L.M., Bork, J.M., Weston, M.D., Askew, J.W., Fields, R.R., Orten, D.J., Ohliger, S.J., Riazuddin, S., Morell, R.J., Khan, S., Kremer, H., van Hauwe, P., Moller, C.G., Cremers, C.W.R.J., Ayuso, C., Heckenlively, J.R., Rohrschneider, K., Spandau, U., Greenberg, J., Ramesar, R., Reardon, W., Bitoun, P., Millan, J., Legge, R., Friedman, T.B., and Kimberling, W.J.

Subjects
Usher's syndrome -- Genetic aspects, Deafness -- Genetic aspects, Biological sciences
Published
2002

12. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Author

Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, and Annerén, G

Published
2012
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16. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

Author

Colige, Alain, Sieron, Aleksander L., Li, Shi-Wu, Schwarze, Ulrike, Petty, Elizabeth, Wertelecki, Wladimir, Wilcox, William, Krakow, Deborah, Cohn, Daniel H., Reardon, W., Byers, Peter H., Lapiere, Charles M., Prockop, Darwin J., and Nusgens, Betty V.

Subjects
Genetic disorders -- Research, Connective tissue diseases -- Genetic aspects, Cattle -- Genetic aspects, Chromosome mapping -- Usage, Biological sciences
Abstract

Bovine dermatosparaxis and human Ehlers-Danlos syndrome (EDS) type VIIC, a recessively inherited connective-tissue disorder, are discussed in relation to the finding that they are both caused by mutations in the procollagen I N-proteinase (pNPI) gene and the resulting lack of activity of pNPI. Bovine cDNA was used to isolate human pNPI to identify the mutations.

Published
1999

17. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes

Author

Tassabehji, Mayada, Metcalfe, Kay, Karmiloff-Smith, Annette, Carette, Martin J., Grant, Julia, Dennis, Nick, Reardon, W., Splitt, Miranda, Read, Andrew P., and Donnal, Dian

Subjects
Genetic disorders -- Research, Chromosome mapping -- Methods, Williams syndrome -- Genetic aspects, Cognition -- Genetic aspects, Clinical neuropsychology -- Genetic aspects, Biological sciences
Abstract

In Williams syndrome (WS) certain physical, behavioral and cognitive abnormalities are caused by an approximately 1.5-Mb deletion on one copy of chromosome 7. Psychometric and genetic testing has been done with patients with small deletions in the WS critical region. It seems neither LIMK1 nor STX1A hemizygosity likely contributes to any part of the WS phenotype. Such patients are important in looking at subtle and very penetrant phenotypes. Studying the molecular mechanism of the phenotype may help in identification of genes important for human behavior and cognition. ELN (ital) encodes elastin and is deleted in WS, and patients with only ELN (ital) mutations had hemizygosity for elastin responsible for the cardiology problems seen in WS. LIMK1, which (ital) encodes a protein tyrosine kinase expressed in the brain during development, is missing, as are some others.

Published
1999

19. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Author

van Bon, B W M, Koolen, D A, Borgatti, R, Magee, A, Garcia-Minaur, S, Rooms, L, Reardon, W, Zollino, M, Bonaglia, M C, De Gregori, M, Novara, F, Grasso, R, Ciccone, R, van Duyvenvoorde, H A, Aalbers, A M, Guerrini, R, Fazzi, E, Nillesen, W M, McCullough, S, Kant, S G, Marcelis, C L, Pfundt, R, de Leeuw, N, Smeets, D, Sistermans, E A, Wit, J M, Hamel, B C, Brunner, H G, Kooy, F, Zuffardi, O, and de Vries, B B A

Published
2008
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22. Genotype-phenotype correlation in Costello syndrome:HRAS mutation analysis in 43 cases

Author

Kerr, B, Delrue, M-A, Sigaudy, S, Perveen, R, Marche, M, Burgelin, I, Stef, M, Tang, B, Eden, O B, O’Sullivan, J, De Sandre-Giovannoli, A, Reardon, W, Brewer, C, Bennett, C, Quarell, O, M’Cann, E, Donnai, D, Stewart, F, Hennekam, R, Cavé, H, Verloes, A, Philip, N, Lacombe, D, Levy, N, Arveiler, B, and Black, G

Published
2006

26. Synpolydactyly phenotypes correlate with size of expansions in HOXD 13 polyalanine tract

Author

Goodman, F.R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M.L., Lapi, E., Majewski, F., McGaughran, J., McKeown, C., Reardon, W., Upton, J., Winter, R.M., Olsen, B.R., and Scambler, P.J.

Subjects
Birth defects -- Genetic aspects, Mutation (Biology) -- Genetic aspects, Genetic disorders -- Research, Genetic transcription -- Regulation, Science and technology
Abstract

Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but incomplete penetrance and variable expressivity are common. The condition has recently been shown to be caused by expansions of an imperfect trinucleotide repeat sequence encoding a 15-residue polyalanine tract in HOXD13. We have studied 16 new and 4 previously published SPD families, with between 7 and 14 extra residues in the tract, to analyze the molecular basis for the observed variation in phenotype. Although there is no evidence of change in expansion size within families, even over six generations, there is a highly significant increase in the penetrance and severity of phenotype with increasing expansion size, affecting both hands (P = 0.012) and feet (P < 0.00005). Affected individuals from a family with a 14-alanine expansion, the largest so far reported, all have a strikingly similar and unusually severe limb phenotype, involving the first digits and distal carpals. Affected males from this family also have hypospadias, not previously described in SPD, but consistent with HOXD13 expression in the developing genital tubercle. The remarkable correlation between phenotype and expansion size suggests that expansion of the tract leads to a specific gain of function in the mutant HOXD13 protein, and has interesting implications for the role of polyalanine tracts in the control of transcription.

Published
1997

29. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

Author

Kerr, B., Delrue, M.-A., Sigaudy, S., Perveen, R., Marche, M., Burgelin, I., Stef, M., Tang, B., Eden, O.B., OESullivan, J., De Sandre-Giovannoli, A., Reardon, W., Brewer, C., Bennett, C., Quarell, O., MECann, E., Donnai, D., Stewart, F., Hennekam, R., Cave, H., Verloes, A., Philip, N., Lacombe, D., Levy, N., Arveiler, B., and Black, G.

Subjects
Multiple abnormalities -- Genetic aspects, Multiple abnormalities -- Causes of, Multiple abnormalities -- Research, Gene mutations -- Analysis, Health
Published
2006

31. Pathogenic variants in GPC4 cause Keipert syndrome

Author

Amor, D.J., Stephenson, S.E.M., Mustapha, M., Mensah, M.A., Ockeloen, C.W., Lee, W.S., Tankard, R.M., Phelan, D.G., Shinawi, M., de Brouwer, A.P.M., Pfundt, R., Dowling, C., Toler, T.L., Sutton, V.R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M., Reardon, W., Shaw-Smith, C., Leventer, R.J., Delatycki, M.B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N.J., Lockhart, P.J., Amor, D.J., Stephenson, S.E.M., Mustapha, M., Mensah, M.A., Ockeloen, C.W., Lee, W.S., Tankard, R.M., Phelan, D.G., Shinawi, M., de Brouwer, A.P.M., Pfundt, R., Dowling, C., Toler, T.L., Sutton, V.R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M., Reardon, W., Shaw-Smith, C., Leventer, R.J., Delatycki, M.B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N.J., and Lockhart, P.J.

Abstract

Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the Australian family that defined Keipert syndrome (nasodigitoacoustic syndrome) identified a hemizygous truncating variant in the gene encoding glypican 4 (GPC4). This variant, located in the final exon of GPC4, results in premature termination of the protein 51 amino acid residues prior to the stop codon, and in concomitant loss of functionally important N-linked glycosylation (Asn514) and glycosylphosphatidylinositol (GPI) anchor (Ser529) sites. We subsequently identified seven affected males from five additional kindreds with novel and predicted pathogenic variants in GPC4. Segregation analysis and X-inactivation studies in carrier females provided supportive evidence that the GPC4 variants caused the condition. Furthermore, functional studies of recombinant protein suggested that the truncated proteins p.Gln506∗ and p.Glu496∗ were less stable than the wild type. Clinical features of Keipert syndrome included a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and digital abnormalities, whereas cognitive impairment and deafness were variable features. Studies of Gpc4 knockout mice showed evidence of the two primary features of Keipert syndrome: craniofacial abnormalities and digital abnormalities. Phylogenetic analysis demonstrated that GPC4 is most closely related to GPC6, which is associated with a bone dysplasia that has a phenotypic overlap with Keipert syndrome. Overall, we have shown that pathogenic variants in GPC4 cause a loss of function that results in Keipert syndrome, making GPC4 the third human glypican to be linked to a genetic syndrome.

Published
2019

32. Pathogenic Variants in GPC4 Cause Keipert Syndrome

Author

Amor, DJ, Stephenson, SEM, Mustapha, M, Mensah, MA, Ockeloen, CW, Lee, WS, Tankard, RM, Phelan, DG, Shinawi, M, de Brouwer, APM, Pfundt, R, Dowling, C, Toler, TL, Sutton, VR, Agolini, E, Rinelli, M, Capolino, R, Martinelli, D, Zampino, G, Dumic, M, Reardon, W, Shaw-Smith, C, Leventer, RJ, Delatycki, MB, Kleefstra, T, Mundlos, S, Mortier, G, Bahlo, M, Allen, NJ, Lockhart, PJ, Amor, DJ, Stephenson, SEM, Mustapha, M, Mensah, MA, Ockeloen, CW, Lee, WS, Tankard, RM, Phelan, DG, Shinawi, M, de Brouwer, APM, Pfundt, R, Dowling, C, Toler, TL, Sutton, VR, Agolini, E, Rinelli, M, Capolino, R, Martinelli, D, Zampino, G, Dumic, M, Reardon, W, Shaw-Smith, C, Leventer, RJ, Delatycki, MB, Kleefstra, T, Mundlos, S, Mortier, G, Bahlo, M, Allen, NJ, and Lockhart, PJ

Abstract

Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the Australian family that defined Keipert syndrome (nasodigitoacoustic syndrome) identified a hemizygous truncating variant in the gene encoding glypican 4 (GPC4). This variant, located in the final exon of GPC4, results in premature termination of the protein 51 amino acid residues prior to the stop codon, and in concomitant loss of functionally important N-linked glycosylation (Asn514) and glycosylphosphatidylinositol (GPI) anchor (Ser529) sites. We subsequently identified seven affected males from five additional kindreds with novel and predicted pathogenic variants in GPC4. Segregation analysis and X-inactivation studies in carrier females provided supportive evidence that the GPC4 variants caused the condition. Furthermore, functional studies of recombinant protein suggested that the truncated proteins p.Gln506∗ and p.Glu496∗ were less stable than the wild type. Clinical features of Keipert syndrome included a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and digital abnormalities, whereas cognitive impairment and deafness were variable features. Studies of Gpc4 knockout mice showed evidence of the two primary features of Keipert syndrome: craniofacial abnormalities and digital abnormalities. Phylogenetic analysis demonstrated that GPC4 is most closely related to GPC6, which is associated with a bone dysplasia that has a phenotypic overlap with Keipert syndrome. Overall, we have shown that pathogenic variants in GPC4 cause a loss of function that results in Keipert syndrome, making GPC4 the third human glypican to be linked to a genetic syndrome.

Published
2019

36. Irish paediatric association and welsh paediatric society: Proceedings of Joint Clinical Meeting, 17th–19th May, 1990 at Ardee Hotel, Waterford

Author

Brennan, A., Byrne, M., Gorby, A., Hoey, H., Alfaham, A., Goodchild, M. C., Campbell, I. A., Newcombe, R., Philpot, C., Fifield, R., Edwards, J., Conlon, T., Griffin, E., Clarke, T., Hilary, I., O’Connor, A., Walsh, J., Glasgow, J. F. T., Robinson, P. H., Moore, R., Crane, J., McKiernan, P., Fox, Gay, Gormally, Siobhan, Blakemore, Laurel, Matthews, T., MacMahon, P., Blair, M. E., Treweeke, I. Z., Kovar, Kemp, Alison, Sibert, Jo, Kemp, Alison, Sibert, Jo, Naughton, E., Gill, D., Hensey, O., Cahalane, S., Murphy, D., Pierce, A., Watson, J. B. C., McKenna, C., Flynn, A., Morrissey, P. A., Sweetnam, A., O’Haloran, E. T., Read, M., Owen, G., Dawson, S., Madarikn, B. A., Rees, B. I., Goodchild, M. C., Lynch, T., McMenamin, J., Wallace, S. J., Dowding, V. M., Barry, C., Earley, M. J., Fitzgerald, R., Philips, J., Garvey, M., Donoghue, V. B., Gorman, W. A., O’Brien, N., Murphy, J. F. A., Reardon, W., Genet, S., Middleton-Price, H., Feighery, C., Rowland, P., Jones, R. T., Doggah, M., Costigan, D. C., Leavy, P., Breathnach, F., Hensey, O., Fitzpatrick, C., Keenan, P., Corbally, M. T., Ryan, P., Nanshanie, A., Fitzpatrick, J., Fitzgerald, R. J., Dohil, R., Jones, V., Jenkins, H., Roberts, E., Lee, P. J., Jones, V., Kurien, A., O’Donoghue, E., Ward, O. C., Denham, B., Duff, D., Rao, S. J., Aburawi, E. H., Denham, B., Aburawi, E. H., Ward, D. C., and Denham, B.

Published
1991
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40. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes. (Original Article)

Author

Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S.N., Newbury-Ecob, R., and Reardon, W.

Subjects
Gene mutations -- Analysis -- Research -- Genetic aspects, Genetic disorders -- Research -- Genetic aspects, Chromosome abnormalities -- Analysis -- Research -- Genetic aspects, Eye -- Movement disorders, Health, Analysis, Research, Genetic aspects
Abstract

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide [...]

Published
2003

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