A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human...
Dis Model Mech - issue: 4-5 - volume: 1 - pages: 241-254.

Marine organisms provide a valuable source for natural products. In recent years, iminoquinone alkaloids including makaluvamines, isobatzellines, tsitsikammamines and wakayin, have emerged as an...
Anticancer Agents Med Chem - issue: 8 - volume: 8 - pages: 910-916.

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human...
Dis Model Mech - issue: 4-5 - volume: 1 - pages: 241-254.

The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells...
Hum. Mol. Genet. - issue: 21 - volume: 17 - pages: 3411-3425.

The syntaxins are proteins associated with various intracellular membrane compartments. They are major participants in a large variety of physiological processes where membrane fusion occurs,...
Gene - issue: 2 - volume: 423 - pages: 160-171.

INTRODUCTION: Adolescent idiopathic scoliosis (characterized by a morphological deformation of the trunk) prompts the development of new postural control strategies. This adaptation has an influence...
Ann Readapt Med Phys - issue: 8 - volume: 51 - pages: 630-635, 636-641.

Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth,...
Hum. Mutat. - issue: 11 - volume: 29 - pages: E242-251.

The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells...
Hum. Mol. Genet. - issue: 21 - volume: 17 - pages: 3411-3425.

Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth,...
Hum Mutat - issue: 11 - volume: 29 - pages: E242-251.

Methyl CpG binding protein 2 (MeCP2) is a member of the methylated DNA binding protein family able to modulate the transcription of target genes. Mutations in MECP2 lead to a wide range of...
Brain Res. - issue: - volume: 1236 - pages: 176-184.

Methyl CpG binding protein 2 (MeCP2) is a member of the methylated DNA binding protein family able to modulate the transcription of target genes. Mutations in MECP2 lead to a wide range of...
Brain Res - issue: - volume: 1236 - pages: 176-184.

Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia....
Clin. Genet. - issue: 4 - volume: 74 - pages: 392-395.

Hutchinson-Gilford Progeria (HGPS), a rare and severe developmental disorder characterized by features recalling premature aging, and Restrictive Dermopathy (RD), a neonatal lethal genodermatosis,...
Med Sci (Paris) - issue: 10 - volume: 24 - pages: 833-840.

What information underwrites visual anticipation skill in dynamic sport situations? We examined this question on the premise that the optical information used for anticipation resides in the dynamic...
Percept Psychophys - issue: 7 - volume: 70 - pages: 1217-1234.

In a strategy to develop more stable ultrasound contrast agents (UCAs), we have designed a process to obtain nano/microcapsules with a single core of liquid perfluorocarbon within a biodegradable...
J Colloid Interface Sci - issue: 1 - volume: 326 - pages: 66-71.

Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia....
Clin. Genet. - issue: 4 - volume: 74 - pages: 392-395.

OBJECTIVE: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we...
J. Med. Genet. - issue: 10 - volume: 45 - pages: 647-653.

OBJECTIVE: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we...
J Med Genet - issue: 10 - volume: 45 - pages: 647-653.

CMT2B1, an axonal subtype (MIM 605588) of the Charcot-Marie-Tooth disease, is an autosomal recessive motor and sensory neuropathy characterized by progressive muscular and sensory loss in the distal...
Ann. Hum. Genet. - issue: Pt 5 - volume: 72 - pages: 590-597.

Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main...
Neurol India - issue: 3 - volume: 56 - pages: 289-297.