Helga Toriello

Elements of morphology: standard terminology for the hands and feet (2009)

Biesecker, Leslie G., Aase, Jon M., Clericuzio, Carol, Gurrieri, Fiorella, Temple, I. Karen, Toriello, Helga

An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and...

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor (2005)

Ramser, Juliane, Abidi, Fatima E., Burckle, Celine A., Lenski, Claus, Toriello, Helga, Wen, Gaiping, ...

The renin–angiotensin system (RAS) is essential for blood pressure control and water–electrolyte balance. Until the discovery of the renin receptor, renin was believed to be mainly a circulating...

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor (2005)

Ramser, Juliane, Abidi, Fatima E., Burckle, Celine A., Lenski, Claus, Toriello, Helga, Wen, Gaiping, ...

The renin angiotensin system is essential for blood pressure control and water-electrolyte balance. Until the discovery of the renin receptor, renin was believed to be mainly a circulating enzyme...

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

Takahara, Kazuhiko, Schwarze, Ulrike, Imamura, Yasutada, Hoffman, Guy G., Toriello, Helga, Smith, Lynne T., ...

Ehlers-Danlos syndrome (EDS) type I (the classical variety) is a dominantly inherited, genetically heterogeneous connective-tissue disorder. Mutations in the COL5A1 and COL5A2 genes, which encode...