Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region

NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome

(2014) Antonella Izzo et al.   HUMAN MOLECULAR GENETICS

GABP Transcription Factor (Nuclear Respiratory Factor 2) Is Required for Mitochondrial Biogenesis

(2014) Z.-F. Yang et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

(2013) Valérie Serre et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Complete monosomy 21 confirmed by FISH and array-CGH

(2012) Anita S. Kulharya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional and biochemical characterization of soleus muscle in Down syndrome mice: insight into the muscle dysfunction seen in the human condition

(2012) Patrick M. Cowley et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Targeting the F1Fo ATP Synthase: Modulation of the Bodys Powerhouse and Its Implications for Human Disease

(2012) John A. Johnson et al.   CURRENT MEDICINAL CHEMISTRY

Lack of behavioral and cognitive effects of chronic ethosuximide and gabapentin treatment in the Ts65Dn mouse model of Down syndrome

(2012) V. Vidal et al.   NEUROSCIENCE

Full Monosomy 21: Echocardiographic Findings in the Third Molecularly Confirmed Case

(2012) D. Fisher et al.   PEDIATRIC CARDIOLOGY

Human diseases with impaired mitochondrial protein synthesis

(2011) Agnès Rötig   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Association between frontal cortex oxidative damage and beta-amyloid as a function of age in Down syndrome

(2011) Giovanna Cenini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Coupling factor 6-induced activation of ecto-F1Fo complex induces insulin resistance, mild glucose intolerance and elevated blood pressure in mice

(2011) T. Osanai et al.   DIABETOLOGIA

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

(2011) Louise Galmiche et al.   HUMAN MUTATION

Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling down syndrome

(2011) Arnaud Duchon et al.   MAMMALIAN GENOME

The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome

(2010) Arnaud Duchon et al.   BEHAVIOURAL BRAIN RESEARCH

Impairment of F1F0-ATPase, adenine nucleotide translocator and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy

(2010) Daniela Valenti et al.   BIOCHEMICAL JOURNAL

Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006

(2010) Samantha E. Parker et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice

(2010) Tao Yu et al.   BRAIN RESEARCH

DEFICITS FORCES THE PRODUCTION OF GRIP DOWN SYNDROME

(2010) Kelly J. Cole et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genomic analysis of partial 21q monosomies with variable phenotypes

(2010) Elisha D O Roberson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions

(2010) Tao Yu et al.   HUMAN MOLECULAR GENETICS

Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature

(2010) Emmanouil Manolakos et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Transcriptional Control of Mitochondrial Biogenesis and Function

(2009) M. Benjamin Hock et al.   Annual Review of Physiology

Behavioral validation of the Ts65Dn mouse model for Down syndrome of a genetic background free of the retinal degeneration mutation Pde6brd1

(2009) Alberto C.S. Costa et al.   BEHAVIOURAL BRAIN RESEARCH

Detailed molecular and clinical characterization of three patients with 21q deletions

(2009) A Lindstrand et al.   CLINICAL GENETICS

A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

(2009) Patricia Lopes Pereira et al.   HUMAN MOLECULAR GENETICS

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

(2009) J. O. Korbel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

(2008) Robert Lyle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS