Van Katwyk, Susan Rogers
Balasegaram, Manica
Boriello, Pete
Farrar, Jeremy
Giubilini, Alberto
Harrison, Mark
Kieny, Marie-Paule
Kirchhelle, Claas
Liu, Joanne
Outterson, Kevin
Pate, Muhammad Ali
Poirier, Mathieu
Røttingen, John-Arne
Savulescu, Julian
Sugden, Rebecca
Thamlikitkul, Visanu
Weldon, Isaac
Davies, Sally
Hoffman, Steven J
Gorman, Kathleen M.
Meyer, Esther
Grozeva, Detelina
Spinelli, Egidio
McTague, Amy
Sanchis-Juan, Alba
Carss, Keren J.
Bryant, Emily
Reich, Adi
Schneider, Amy L.
Pressler, Ronit M.
Simpson, Michael A.
Debelle, Geoff D.
Wassmer, Evangeline
Morton, Jenny
Sieciechowicz, Diana
Jan-Kamsteeg, Eric
Paciorkowski, Alex R.
King, Mary D.
Cross, J. Helen
Poduri, Annapurna
Mefford, Heather C.
Scheffer, Ingrid E.
Haack, Tobias B.
McCullagh, Gary
Millichap, John J.
Carvill, Gemma L.
Clayton-Smith, Jill
Maher, Eamonn R.
Raymond, F. Lucy
Kurian, Manju A.
McRae, Jeremy F.
Clayton, Stephen
Fitzgerald, Tomas W.
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M.
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D.
King, Daniel
Krishnappa, Netravathi
Mason, Laura E.
Singh, Tarjinder
Tivey, Adrian R.
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A. Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J.
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N.
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D’Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eas
Gannon, Tamsin
Perveen, Rahat
Schlecht, Helene
Ramsden, Simon
Anderson, Beverley
Kerr, Bronwyn
Day, Ruth
Banka, Siddharth
Suri, Mohnish
Berland, Siren
Gabbett, Michael
Ma, Alan
Lyonnet, Stan
Cormier-Daire, Valerie
Yilmaz, Rustem
Borck, Guntram
Wieczorek, Dagmar
Anderlid, Britt-Marie
Smithson, Sarah
Vogt, Julie
Moore-Barton, Heather
Simsek-Kiper, Pelin Ozlem
Maystadt, Isabelle
Destree, Anne
Bucher, Jessica
Angle, Brad
Mohammed, Shehla
Wakeling, Emma
Price, Sue
Singer, Amihood
Sznajer, Yves
Toutain, Annick
Haye, Damien
Newbury-Ecob, Ruth
Fradin, Melanie
McGaughran, Julie
Tuysuz, Beyhan
Tein, Mark
Bouman, Katelijne
Dabir, Tabib
Van den Ende, Jenneke
Luk, Ho Ming
Pilz, Daniela T
Eason, Jacqueline
Davies, Sally
Reardon, Willie
Garavelli, Livia
Zuffardi, Orsetta
Devriendt, Koen
Armstrong, Ruth
Johnson, Diana
Doco-Fenzy, Martine
Bijlsma, Emilia
Unger, Sheila
Veenstra-Knol, Hermine E
Kohlhase, Jurgen
Lo, Ivan F M
Smith, Janine
Clayton-Smith, Jill
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed. =20
A low temperature copper/zinc/aluminum water gas shift catalyst is described. The catalyst is formed from a precursor, wherein the precursor includes aluminum in the form of hydrotalcite and aluminum separate from the hydrotalcite. A method of making the catalyst and a process for using the catalyst are also described.
A low temperature metal promoted copper/zinc/aluminum water gas shift catalyst is described. The catalyst is formed from a precursor, wherein the precursor includes aluminum in the form of hydrotalcite and aluminum separate from the hydrotalcite. A method of making the catalyst and a process for using the catalyst are also described.
Lo Nigro, Cristiana
Cusano, Roberto
Scaranari, Monica
Cinti, Roberta
Forabosco, Paola
Morra, Vincenzo Brescia
De Michele, Giuseppe
Santoro, Lucio
Davies, Sally
Hurst, Jane
Devoto, Marcella
Ravazzolo, Roberto
Seri, Marco
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disorder characterised by progressive spasticity of the lower limbs. Beside 'pure' forms of HSP, 'complicated' forms are reported, where spasticity occurs associated with additional symptoms. We recently described an Italian family with a complicated dominant form of HSP (SPG9) and we mapped the gene responsible to 10q23.3-q24.2, in a 12 cM interval between markers D10S564 and D10S603. The phenotypic manifestations in our family are reminiscent of those already described in a smaller British pedigree. We typed individuals from this British family using markers located in the SPG9 critical interval and haplotype reconstruction showed the disorder co-segregating with SPG9. To characterise the SPG9 region better, we constructed a contig of 22 YACs, assigned it to 18 polymorphic markers and positioned 54 ESTs. Furthermore, we searched for ESTs containing a trinucleotide repeat sequence, since anticipation of symptoms was reported in both families. Finally, analysis of a muscle biopsy specimen from one patient was normal, suggesting that, contrary to SPG7, mitochondrial disturbance could not be a primary feature of SPG9.