Andreas Perrot

Sort by:

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

Wei Guo, Sebastian Schafer, +25 authors Michael Gotthardt
Nature Medicine
2012

Alternative splicing has a major role in cardiac adaptive responses, as exemplified by the isoform switch of the sarcomeric protein titin, which adjusts ventricular filling. By positional cloning… (More)

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

Philippe Charron, Michael Arad, +14 authors Luigi T Tavazzi
European heart journal
2010

Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European… (More)

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.

Bernard Hoffmann, Hajo Schmidt-Traub, Andreas Perrot, Karl Josef Osterziel, Reinhard Gessner
Human mutation
2001

Blind ratings of early symptoms of autism based upon family home movies.

Joe¨lle Adrien, Pascal Lenoir, +4 authors Dominique Sauvage
Journal of the American Academy of Child and…
1993

Ratings of family home movies of 12 infants (0 to 2 years old) who were later diagnosed as autistic and 12 normal infants were performed by two diagnosis-blind psychiatrists with Infant Behavior… (More)

Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.

Sebastian E Kirschner, Edgar Becker, +10 authors Theresia Kraft
American journal of physiology. Heart and…
2005

Disease-causing mutations in cardiac myosin heavy chain (beta-MHC) are identified in about one-third of families with hypertrophic cardiomyopathy (HCM). The effect of myosin mutations on calcium… (More)

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.

Christian Geier, Andreas Perrot, +14 authors Karl Josef Osterziel
Circulation
2003

BACKGROUND Muscle LIM protein (MLP) is an essential nuclear regulator of myogenic differentiation. Additionally, it may act as an integrator of protein assembly of the actin-based cytoskeleton.… (More)

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.

Maximilian G. Posch, Andreas Perrot, +8 authors Felix Berger
American journal of medical genetics. Part A
2008

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

Siv Fokstuen, Robert Lyle, +11 authors J. L. Blouin
Human mutation
2008

Hypertrophic cardiomyopathy (HCM) is a heterogeneous autosomal dominant cardiac disorder with a prevalence of 1 in 500. Over 450 different pathogenic mutations in at least 16 genes have been… (More)

Validity and reliability of the infant behavioral summarized evaluation (IBSE): a rating scale for the assessment of young children with autism and developmental disorders.

Joe¨lle Adrien, Catherine Barthélémy, +4 authors Dominique Sauvage
Journal of autism and developmental disorders
1992

The Infant Behavioral Summarized Evaluation (IBSE) is a rating scale adapted from the Behavioral Summarized Evaluation (BSE) and specifically related to the assessment of behaviors of young children… (More)

Early symptoms in autism from family home movies. Evaluation and comparison between 1st and 2nd year of life using I.B.S.E. scale.

Joe¨lle Adrien, Andreas Perrot, +4 authors Catherine Barthélémy
Acta paedopsychiatrica
1992

The analysis of 11 home movies taken by parents before the recognition of autistic or atypical disorders of their own child has confirmed the major value of this method for describing early… (More)

Filter Results:

Publication Year

Publication Type

Co-author

Journals and Conferences