Pages that link to "Q34169421"

The following pages link to Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient (Q34169421):

Displaying 48 items.

• DNMT1 interacts with the developmental transcriptional repressor HESX1 (Q24652885) (← links)
• A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency (Q24658065) (← links)
• A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction (Q24681401) (← links)
• The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines (Q30248949) (← links)
• Visually impaired children with posterior ocular malformations: pre- and neonatal data and visual functions (Q30811695) (← links)
• Combined pituitary hormone deficiency: current and future status (Q30848681) (← links)
• Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate (Q30947967) (← links)
• Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia (Q31035731) (← links)
• Hypopituitarism oddities: congenital causes (Q31141847) (← links)
• The syndrome of optic nerve hypoplasia (Q31172559) (← links)
• Genetic regulation of pituitary gland development in human and mouse (Q33590141) (← links)
• Septo-optic dysplasia (Q34328853) (← links)
• Novel insights into the aetiology and pathogenesis of hypopituitarism (Q34367104) (← links)
• Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency (Q34622336) (← links)
• Genetics of septo-optic dysplasia (Q34640923) (← links)
• Three Japanese Patients With Congenital Pituitary Hormone Deficiency and Ophthalmological Anomalies (Q35514521) (← links)
• From panhypopituitarism to combined pituitary deficiencies: do we need the anterior pituitary? (Q35668777) (← links)
• Inherited adrenal hypoplasia: not just for kids! (Q35754297) (← links)
• The adrenal (Q35946579) (← links)
• Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene (Q36021378) (← links)
• Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? (Q36214845) (← links)
• Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations (Q36620538) (← links)
• The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism (Q36793669) (← links)
• Septo-optic dysplasia - novel insights into the aetiology (Q37079660) (← links)
• Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus (Q37427898) (← links)
• PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. (Q37446485) (← links)
• The molecular basis of hypopituitarism (Q37456706) (← links)
• Identification of HESX1 mutations in Kallmann syndrome (Q37466303) (← links)
• Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea (Q37723287) (← links)
• Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond (Q37852208) (← links)
• Optic nerve hypoplasia (Q38148136) (← links)
• Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics (Q39066662) (← links)
• Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism (Q41496210) (← links)
• Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan (Q42281635) (← links)
• Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates (Q42631334) (← links)
• Transcriptome analysis reveals determinant stages controlling human embryonic stem cell commitment to neuronal cells. (Q42777957) (← links)
• Congenital third nerve palsy in septo-optic dysplasia (Q43007719) (← links)
• A novel SNP of the Hesx1 gene in bovine and its associations with average daily gain (Q46876287) (← links)
• Optic nerve axons: life and death before birth (Q48564085) (← links)
• Septo-optic-pituitary dysplasia (Q48914772) (← links)
• Optic nerve hypoplasia and septo-optic dysplasia (Q50432806) (← links)
• De Morsier syndrome associated with periventricular nodular heterotopia: case report (Q51737025) (← links)
• Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency (Q51968780) (← links)
• Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia. (Q53447605) (← links)
• A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency. (Q54694823) (← links)
• Genética molecular do eixo hipotálamo-hipófise-gonadal (Q57632723) (← links)
• Pituitary Transcription Factor Mutations Leading to Hypopituitarism (Q90540512) (← links)
• A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition (Q90724638) (← links)