Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome (2008)
Reports of SHORT syndrome have, to date, focused on the clinical features which lie at the core of the diagnosis but there has been little by way of report of long-term outcome, either in terms of...
Assisted reproductive therapies and imprinting disorders - a preliminary British survey (2006)
Sutcliffe, A.G., Peters, C.J., Bowdin, S., Temple, K., Reardon, W., Wilson, L., ...
BACKGROUND: Recent reports have suggested a higher risk of Beckwith-Wiedemann syndrome (BWS) and Angelman syndrome (AS) after assisted reproductive technologies (ARTs), but it is unclear whether this...
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases (2006)
Kerr, B., Delrue, M.A., Sigaudy, S., Perveen, R., Marche, M., Burgelin, I., ...
Background: Costello syndrome (CS) is a rare multiple congenital abnormality syndrome, associated with failure to thrive and developmental delay. One of the more distinctive features in childhood is...
Assisted reproductive therapies and imprinting disorders - a preliminary British survey (2005)
Sutcliffe, A.G., Peters, C.J., Bowdin, S., Temple, K., Reardon, W., Wilson, L., ...
Background: Recent reports have suggested a higher risk of Beckwith–Wiedemann syndrome (BWS) and Angelman syndrome (AS) after assisted reproductive technologies (ARTs), but it is unclear whether...
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome (2005)
Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G. K., Clarke, A., Collins, A., ...
Background: Sotos syndrome (MIM 117550) is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for 10% of...
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) (2005)
Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...
Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS) (2005)
Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...
Craniofrontonasal syndrome (CFNS) is an X-linked disorder characterized by a more severe manifestation in heterozygous females than in hemizygous males. Heterozygous females have craniofrontonasal...
Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS) (2005)
Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...
Craniofrontonasal syndrome (CFNS) is an X-linked disorder characterized by a more severe manifestation in heterozygous females than in hemizygous males. Heterozygous females have craniofrontonasal...
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) (2005)
Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome (2005)
Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Chandler, K., Clarke, A., ...
BACKGROUND: Sotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for approximately 10%...
Molecular analysis of the PDS gene in Pendred syndrome (1998)
Coyle, B, Reardon, W, Herbrick, JA, Tsui, L-C, Gausden, E, Lee, J, ...
Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of...
Mutations in CDMP1 cause autosomal dominant brachydactyly type C (1997)
Warman, M.L., Luyten, F.P., Donnai, D., McGaughran, J., Chitayat, D., Burgt, I. Van Der, ...
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., ...
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...
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
Goodman, F, Giovannucci-Uzielli, M L, Hall, C, Reardon, W, Winter, R, Scambler, P
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet, with digit duplication in the syndactylous web....
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase, J, Taschner, P E, Burfeind, P, Pasche, B, Newman, B, Blanck, C, ...
Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. Recently, we showed that mutations in the putative zinc...
Colige, A, Sieron, A L, Li, S W, Schwarze, U, Petty, E, Wertelecki, W, ...
Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies, joint laxity, droopy skin, umbilical...
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
Hagan, D M, Ross, A J, Strachan, T, Lynch, S A, Ruiz-Perez, V, Wang, Y M, ...
The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene specifies a 403-amino acid protein...
Tassabehji, M, Metcalfe, K, Karmiloff-Smith, A, Carette, M J, Grant, J, Dennis, N, ...
In Williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may...
Harley, H G, Rundle, S A, MacMillan, J C, Myring, J, Brook, J D, Crow, S, ...
A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from 101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all cases of myotonic...
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
Bach, I., Brunner, H. G., Beighton, P., Ruvalcaba, R. H. A., Reardon, W., Pembrey, M. E., ...
Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible...
Anticipation in myotonic dystrophy: new light on an old problem.
Harper, P S, Harley, H G, Reardon, W, Shaw, D J
The concept of anticipation, the occurrence of a genetic disorder at progressively earlier ages in successive generations, has been debated from the early years of this century, with myotonic...
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., ...
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...
Astuto, L. M., Bork, J. M., Weston, M. D., Askew, J. W., Fields, R. R., Orten, D. J., ...
Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic...
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
Goodman, F, Giovannucci-Uzielli, M L, Hall, C, Reardon, W, Winter, R, Scambler, P
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet, with digit duplication in the syndactylous web....
Tassabehji, M, Metcalfe, K, Karmiloff-Smith, A, Carette, M J, Grant, J, Dennis, N, ...
In Williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may...
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase, J, Taschner, P E, Burfeind, P, Pasche, B, Newman, B, Blanck, C, ...
Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. Recently, we showed that mutations in the putative zinc...
Colige, A, Sieron, A L, Li, S W, Schwarze, U, Petty, E, Wertelecki, W, ...
Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies, joint laxity, droopy skin, umbilical...
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
Hagan, D M, Ross, A J, Strachan, T, Lynch, S A, Ruiz-Perez, V, Wang, Y M, ...
The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene specifies a 403-amino acid protein...
Harley, H G, Rundle, S A, MacMillan, J C, Myring, J, Brook, J D, Crow, S, ...
A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from 101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all cases of myotonic...
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
Bach, I., Brunner, H. G., Beighton, P., Ruvalcaba, R. H. A., Reardon, W., Pembrey, M. E., ...
Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible...
Anticipation in myotonic dystrophy: new light on an old problem.
Harper, P S, Harley, H G, Reardon, W, Shaw, D J
The concept of anticipation, the occurrence of a genetic disorder at progressively earlier ages in successive generations, has been debated from the early years of this century, with myotonic...
Cataract and myotonic dystrophy: the role of molecular diagnosis.
Reardon, W, MacMillan, J C, Myring, J, Harley, H G, Rundle, S A, Beck, L, ...
Myotonic dystrophy (dystrophia myotonica), the commonest and most variable of the muscular dystrophies of adult life, has long been known to be associated with cataract, while slit-lamp examination...
Optic disc anomalies and frontonasal dysplasia
Hodgkins, P, Lees, M, Lawson, J, Reardon, W, Leitch, J, Thorogood, P, ...
AIMS—To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS—Names and hospital numbers of patients with midline clefts...
Van Herwerden, L., Rose, C. S., Reardon, W., Brueton, L. A., Weissenbach, J., Malcolm, S., ...
Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned...
Central nervous system malformations in Mohr's syndrome.
Reardon, W, Harbord, M G, Hall-Craggs, M A, Kendall, B, Brett, E M, Baraitser, M
A boy with severe developmental delay, bilateral, symmetrical hallucal duplication, and accessory alveolar frenula was found to have radiological evidence of a large arachnoid cyst compressing the...
Reardon, W, Hall, C M, Dillon, M J, Baraitser, M
A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and...
Minimal expression of myotonic dystrophy: a clinical and molecular analysis.
Reardon, W, Harley, H G, Brook, J D, Rundle, S A, Crow, S, Harper, P S, ...
A clinical and molecular study is reported of 83 patients considered to be minimally affected with myotonic dystrophy (DM). These had been identified in three ways: 60 subjects were identified on...
Reardon, W, Lewis, N, Hughes, H E
Genetic counselling in the autosomal dominant condition of the Romano-Ward syndrome might be assumed to be relatively straightforward. The problems posed by consanguinity, deafness, and subclinical...
Cerebellar ataxia and ectodermal dysplasia in brothers.
Baraitser, M, Reardon, W, McShane, A, Wilson, J
Two brothers are documented with an ectodermal dysplasia primarily involving the teeth and hair. Both have developed cerebellar ataxia in the early teens.
Medical genetics: advances in brief: Congenital bilateral perisylvian syndrome: study of 31 patients
A new form of familial ataxia, deafness, and mental retardation.
Reardon, W, Wilson, J, Cavanagh, N, Baraitser, M
Conditions causing familial ataxia, deafness, and developmental delay are considered in the context of describing brothers with a new disorder characterised by these clinical features.
Bitner-Glindzicz, M, De Kok, Y, Summers, D, Huber, I, Cremers, F P, Ropers, H H, ...
We have used three highly polymorphic microsatellite repeats from Xq21 to type families in whom a gene for X linked deafness with perilymphatic gusher (DFN 3) was segregating. All three markers were...
Median clefting of the upper lip associated with cutaneous polyps.
Reardon, W, Jones, B, Baraitser, M
Details are presented of a patient with median clefting of the upper lip and cutaneous polyps. Four similar published case reports are considered to share the same condition. The spectrum of the...
Sex linked deafness: Wilde revisited.
Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in...
Two brothers with heart defects and limb shortening: case reports and review.
Reardon, W, Hurst, J, Farag, T I, Hall, C, Baraitser, M
Two male Arab sibs are reported with congenital heart disease and skeletal malformations. Other published case reports sharing some features in common with these brothers are considered. However,...
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.
Reardon, W, Van Herwerden, L, Rose, C, Jones, B, Malcolm, S, Winter, R M
Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant...
Wilkie, A O, Yang, S P, Summers, D, Poole, M D, Reardon, W, Winter, R M
We describe three families segregating different reciprocal chromosome translocations, t(7;18)(p21.2;q23), t(2;7)(q21.1;p21.2), and t(5;7)(p15.3;p21.2). A total of seven apparently balanced carriers...
Wilkes, D, Rutland, P, Pulleyn, L J, Reardon, W, Moss, C, Ellis, J P, ...
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial...
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