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Phosphorylation switches specific for the cardiac isoform of myosin binding protein‐C: a modulator of cardiac contraction?
Cardiac myosin binding protein‐C (cardiac MyBP‐C, cardiac C protein) belongs to a family of proteins implicated in both regulatory and structural functions of striated muscle. For the cardiacExpand
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Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm
SummaryA deletion of the Y chromosome at the distal portion of band q11 was found in 6 men with normal male habitus but with azoospermia. Five of them were found during a survey of 1170 subfertileExpand
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A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
Male to female sex reversal has been observed in individuals with duplications of the short arm of the X chromosome. Here we demonstrate that sex reversal results from the presence of two activeExpand
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Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
The olfactory receptor (OR)-gene superfamily is the largest in the mammalian genome. Several of the human OR genes appear in clusters with > or = 10 members located on almost all human chromosomes,Expand
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two withExpand
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Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell‐therapy approaches: Further insights in the search for a fetal calf serum substitute
There is great interest in mesenchymal stromal cells (MSCs) for cell‐therapy and tissue engineering approaches. MSCs are currently expanded in vitro in the presence of fetal calf serum (FCS);Expand
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mentalExpand
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Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
We investigated two male infant patients who were given a diagnosis of progressive mitochondrial encephalomyopathy on the basis of clinical, biochemical, and morphological features. These patientsExpand
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Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.
Significant improvement in the understanding of mesenchymal stem cell (MSC) biology has opened the way to their clinical use. However, concerns regarding the possibility that MSCs undergo malignantExpand
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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
Editor—Cryptic telomeric rearrangements are a significant cause of idiopathic mental retardation. Knight et al 1 found 7.4% of these rearrangements in children with moderate to severe mentalExpand
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