Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations
about
Sonic hedgehog signaling in the development of the mouse hypothalamusGLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cellsShaping the sound of voice.Cilia-mediated Hedgehog signaling controls form and function in the mammalian larynx.GLI3 repressor controls functional development of the mouse ureterUrogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.Holoprosencephaly.Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.Behaviour disorder in monosomy 10qterPallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?Pallister-Hall syndrome.Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndromeStringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit.Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndromeOvarian differentiation and gonadal failure.Genetics of the female reproductive ducts.Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.The use of neuroimaging for assessing disorders of pituitary development.Genomewide scan for anal atresia in swine identifies linkage and association with a chromosome region on Sus scrofa chromosome 1.New insights into genotype-phenotype correlation for GLI3 mutations.Coupling genomics and human genetics to delineate basic mechanisms of development.Cardiovascular anomalies with imperforate anusFacial metrics in children with corticotrophin-producing pituitary adenomas suggest abnormalities in midface development.Shadows of complexity: what biological networks reveal about epistasis and pleiotropy.Congenital anomalies of kidney and hand: a review.Adrenocortical stem and progenitor cells: implications for adrenocortical carcinomaMammalian kidney development: principles, progress, and projectionsDiverse functions of Hedgehog signaling in formation and physiology of steroidogenic organs.Regulation of the adrenocortical stem cell niche: implications for diseaseWhat you can learn from one gene: GLI3The many faces of oral-facial-digital syndromeUnraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.Semilobar holoprosencephaly with 21q22 deletion: an autopsy report.Control of mammalian kidney development by the Hedgehog signaling pathway.Sonic hedgehog signaling during adrenal developmentThe study of genetic syndromes in a rural setting.
P2860
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P2860
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations
description
1980 nî lūn-bûn
@nan
1980 թուականին հրատարակուած գիտական յօդուած
@hyw
1980 թվականին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
name
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@ast
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@en
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@nl
type
label
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@ast
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@en
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@nl
prefLabel
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@ast
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@en
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@nl
P2093
P3181
P356
P1476
Congenital hypothalamic hamart ...... nd pathogenetic considerations
@en
P2093
F C Fraser
F W Wiglesworth
J B Beckwith
P D Pallister
S K Clarren
P3181
P356
10.1002/AJMG.1320070110
P407
P577
1980-01-01T00:00:00Z