Parental origin of transcription from the human GNAS1 gene.

بواسطة Campbell, R, Gosden, C M, Bonthron, D T
منشور في 1994

Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.

بواسطة Jouet, M, Strain, L, Bonthron, D, Kenwrick, S
منشور في 1996

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

بواسطة Strain, L, Wright, A F, Bonthron, D T
منشور في 1997

Platelet-derived growth factor A chain: gene structure, chromosomal location, and basis for alternative mRNA splicing.

بواسطة Bonthron, D T, Morton, C C, Orkin, S H, Collins, T
منشور في 1988

SmaI and HhaI polymorphisms in the 5′ region of the human von Willebrand factor gene (F8VWF)

بواسطة Strain, L., Bonthron, D.T., Brock, D.J.H.
منشور في 1991

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

بواسطة Bonthron, D T, Markham, A F, Ginsburg, D, Orkin, S H
منشور في 1985

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

بواسطة Bonthron, D T, Smith, S J, Fantes, J, Gosden, C M
منشور في 1993

PMS2 mutations in childhood cancer

بواسطة Bonthron, D T, Hayward, B E, De Vos, M, Sheridan, E
منشور في 2005

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

بواسطة Strain, L., Gosden, C. M., Brock, D. J., Bonthron, D. T.
منشور في 1994

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).

بواسطة Bonthron, D T, Barlow, K M, Burt, A M, Barr, D G
منشور في 1993

Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element.

بواسطة Resnick, N, Collins, T, Atkinson, W, Bonthron, D T, Dewey, C F, Gimbrone, M A
منشور في 1993

Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element.

بواسطة Resnick, N, Collins, T, Atkinson, W, Bonthron, D T, Dewey, C F, Gimbron, M A
منشور في 1993

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3

بواسطة Brickwood, S, Bonthron, D, Al-Gazali, L, Piper, K, Hearn, T, Wilson, D, Hanley, N
منشور في 2003

Human platelet-derived growth factor A chain is transcriptionally repressed by the Wilms tumor suppressor WT1.

بواسطة Gashler, A L, Bonthron, D T, Madden, S L, Rauscher, F J, Collins, T, Sukhatme, V P
منشور في 1992

Nucleotide sequence of pre-pro-von Willebrand factor cDNA.

بواسطة Bonthron, D, Orr, E C, Mitsock, L M, Ginsburg, D, Handin, R I, Orkin, S H
منشور في 1986

Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.

بواسطة Bonthron, D T, Dunlop, N, Barr, D G, El Sanousi, A A, Al-Gazali, L I
منشور في 1998

Platelet-derived growth factor A-chain gene transcription is mediated by positive and negative regulatory regions in the promoter.

بواسطة Kaetzel, D M, Maul, R S, Liu, B, Bonthron, D, Fenstermaker, R A, Coyne, D W
منشور في 1994

A locus for isolated cleft palate, located on human chromosome 2q32.

بواسطة Brewer, C M, Leek, J P, Green, A J, Holloway, S, Bonthron, D T, Markham, A F, FitzPatrick, D R
منشور في 1999

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X‐linked mental retardation with hydrocephalus and calcifica...

بواسطة Saillour, Y, Zanni, G, Portes, V Des, Heron, D, Guibaud, L, Iba‐Zizen, M T, Pedespan, J L, Poirier, K, Castelnau, L, Julien, C, Franconnet, C, Bonthron, D, Porteous, M E, Chelly, J, Bienvenu, T
منشور في 2007