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Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into theExpand
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Developmental mucin gene expression in the human respiratory tract.
The epithelial surface of the respiratory tract is coated with a protective film of mucus secreted by epithelial goblet and submucosal gland cells. Histology of the airway mucosa and composition ofExpand
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Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. II. Duodenum and Liver, Gallbladder, and Pancreas
Studies were undertaken to provide information regarding cell-specific expression of mucin genes and their relation to developmental and neoplastic patterns of epithelial cytodifferentiation. In situExpand
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New insights into genotype–phenotype correlation for GLI3 mutations
The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister–Hall syndrome (PHS). PHS was first described as a lethal conditionExpand
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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as cortical dysplasia combined with dysmyelination, dysplastic cerebellum withExpand
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Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
BACKGROUND/AIMS The aim of this study was to delineate the specific clinical, biological and liver morphological alterations of the hepatocerebral syndrome due to alterations in the deoxyguanosineExpand
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Chronic histiocytic intervillositis of unknown etiology: clinical features in a consecutive series of 69 cases.
INTRODUCTION Chronic histiocytic intervillositis of unknown etiology (CIUE) is a rare placental inflammatory disease, associated with severe obstetric complications. Its pathophysiologic mechanismExpand
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Mucin gene expression in human embryonic and fetal intestine
Background—The intestinal epithelium is covered by a continuous layer of mucus which is secreted by well differentiated epithelial cells. Disregulation of the expression of mucins has been reportedExpand
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Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. I. Stomach: A Relationship to Gastric Carcinoma
Studies were undertaken to provide information regarding cell-specific expression of mucin genes in stomach and their relation to developmental and neoplastic patterns of epithelialExpand
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Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn
Abstract. The term alveolar capillary dysplasia refers to complex vascular abnormalities which have recently been identified in some infants with persistent pulmonary hypertension. We report fourExpand
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