C. Boucher

发表

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.

M. Siciliano, R. Krahe, C. Winchester, 1995, Human molecular genetics.

The novel activation of ABL by fusion to an ets-related gene, TEL.

L. Wiedemann, C. Stocking, C. Boucher, 1995, Cancer research.

TEL-related Gene , ets by Fusion to an ABL The Novel Activation of Updated

L. Wiedemann, C. Stocking, C. Boucher, 2006 .

Molecular pathogenesis of autosomal dominant polycystic kidney disease

R. Sandford, S. Mulroy, B. Yoder, 2006, Expert Reviews in Molecular Medicine.

Cloning of the human SIX1 gene and its assignment to chromosome 14.

M. Siciliano, Y. Edwards, N. Carey, 1996, Genomics.

Ontogeny of hepatocyte growth factor and c-met/hgf receptor in rat pancreas.

E. Calvo, J. Morisset, C. Boucher, 1996, Biochemical and biophysical research communications.

Characterization of the human Xq21.3/Yp11 homology block and conservation of organization in primates.

T. Crow, N. Affara, C. Sargent, 2001, Genomics.

More than colocalizing with polycystin-1, polycystin-L is in the centrosome.

R. Sandford, Jing Zhou, Xing-Zhen Chen, 2006, American journal of physiology. Renal physiology.

The critical region of overlap defining theAZFa male infertility interval of proximal Yq contains three transcribed sequences

G. Rappold, N. Lévy, P. Burgoyne, 1999, Journal of medical genetics.

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location

T. Ogata, N. Affara, C. Sargent, 2001, Journal of medical genetics.

Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain

M. Mitchell, N. Affara, C. Sargent, 2000, Mammalian Genome.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

S. Auvin, T. Frebourg, N. Le Meur, 2009, Journal of Medical Genetics.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.

Pancreatic GAPDH gene expression during ontogeny and acute pancreatitis induced by caerulein.

E. Calvo, J. Morisset, C. Boucher, 1997, Biochemical and Biophysical Research Communications - BBRC.

A novel poly(A)-binding protein gene (PABPC5) maps to an X-specific subinterval in the Xq21.3/Yp11.2 homology block of the human sex chromosomes.

G. Howell, M. Ross, N. Affara, 2001, Genomics.

Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development.

M. Baiget, L. Martorell, K. Johnson, 1997, Human molecular genetics.

Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2.

C. Winchester, A. Winter, C. Boucher, 2000, Gene.

Triplication of several PAR1 genes and part of theHomo sapiens specific Yp11.2/Xq21.3 region of homology in a 46,X,t(X;Y)(p22.33;p11.2) male with schizophrenia

T. Crow, N. Williams, S. Nanko, 2001, Journal of medical genetics.

Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2)

R. Sandford, C. Boucher, 2004, European Journal of Human Genetics.

Cystic Renal Diseases

P. Winyard, R. Sandford, S. Mulroy, 2003 .

Receptor protein tyrosine phosphatases are novel components of a polycystin complex.

P. Wilson, A. Wandinger-Ness, R. Sandford, 2011, Biochimica et biophysica acta.

Triplet repeats in neuromuscular disorders.

K. Johnson, C. Boucher, 1995, Annals of medicine.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.