Anna Pelet

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence (2009)

Benko, Sabina, Fantes, Judy A., Amiel, Judy A., Kleinjan, Dirk-Jan, Thomas, Sophie, Ramsay, Jacqueline, ...

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate (2002)

Castanet, Mireille, Park, Soo-Mi, Smith, Aaron, Bost, Michel, Léger, Juliane, Lyonnet, Stanislas, ...

Thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH) and its genetic basis is largely unknown. Here, we describe the second homozygous missense mutation in TTF-2 (or FOXE1),...

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. (2000)

Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...

Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease (1995)

Attié, Tania, Till, Marianne, Pelet, Anna, Amiel, Jeanne, Edery, Patrick, Boutrand, Laetitia, ...

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease (1995)

Attié, Tania, Pelet, Anna, Edery, Patrick, Eng, Charis, Mulligan, Lois M., Amiel, Jeanne, ...

Hirschsprung disease (HSCR) is a common congenital malformation (1 in 5 000 live births) due to the absence of autonomic ganglia in the terminal hindgut, and resulting in intestinal obstruction in...

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease (1994)

Attle, Tanla, Pelet, Anna, Sarda, Pierre, Eng, Chads, Edery, Patrick, Mulligan, Lois M., ...

A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...

Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

Amiel, Jeanne, Espinosa-Parrilla, Yolanda, Steffann, Julie, Gosset, Philippe, Pelet, Anna, Prieur, Marguerite, ...

Hirschsprung disease (HSCR) is a common malformation of neural-crest–derived enteric neurons that is frequently associated with other congenital abnormalities. The SMADIP1 gene recently has been...

A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...

Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

Amiel, Jeanne, Espinosa-Parrilla, Yolanda, Steffann, Julie, Gosset, Philippe, Pelet, Anna, Prieur, Marguerite, ...

Hirschsprung disease (HSCR) is a common malformation of neural-crest–derived enteric neurons that is frequently associated with other congenital abnormalities. The SMADIP1 gene recently has been...