Pages that link to "Q36259714"
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The following pages link to Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS (Q36259714):
Displaying 50 items.
- osteitis fibrosa cystica (Q799615) (← links)
- A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS (Q24531505) (← links)
- Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification (Q24654579) (← links)
- The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene (Q26852157) (← links)
- New insights into establishment and maintenance of DNA methylation imprints in mammals (Q26852971) (← links)
- Gene Dosage Effects at the Imprinted Gnas Cluster (Q27316512) (← links)
- Antagonism between DNA and H3K27 methylation at the imprinted Rasgrf1 locus (Q28473208) (← links)
- Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit (Q28508007) (← links)
- Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib (Q28593878) (← links)
- Human imprinted chromosomal regions are historical hot-spots of recombination. (Q33250071) (← links)
- Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm (Q33309935) (← links)
- Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B (Q33736185) (← links)
- Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis (Q34032076) (← links)
- Bone mineral density in pseudohypoparathyroidism type 1a. (Q34113096) (← links)
- Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction (Q34297140) (← links)
- Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. (Q34344912) (← links)
- Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects (Q34539740) (← links)
- Pseudohypoparathyroidism: one gene, several syndromes (Q34547669) (← links)
- Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib) (Q34574573) (← links)
- Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. (Q34587621) (← links)
- Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus (Q35116923) (← links)
- Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation (Q35156029) (← links)
- Madelung-like deformity in pseudohypoparathyroidism type 1b (Q35198544) (← links)
- Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth (Q35442006) (← links)
- TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib) (Q35463280) (← links)
- GNAS Spectrum of Disorders (Q35563016) (← links)
- What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity? (Q35702600) (← links)
- Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B) (Q35850430) (← links)
- Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib. (Q35921843) (← links)
- Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology (Q36076341) (← links)
- A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism (Q36087092) (← links)
- Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B (Q36201551) (← links)
- European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study (Q36338177) (← links)
- Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders (Q36433565) (← links)
- De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases (Q36442417) (← links)
- Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. (Q36507925) (← links)
- Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion (Q36784438) (← links)
- Clinical utility gene card for: pseudohypoparathyroidism (Q36856436) (← links)
- Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region (Q37004529) (← links)
- Transcription is required for establishment of germline methylation marks at imprinted genes (Q37075687) (← links)
- The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts (Q37165427) (← links)
- Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease (Q37255402) (← links)
- Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis (Q37259970) (← links)
- Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? (Q37270662) (← links)
- Imprinting on chromosome 20: Tissue‐specific imprinting and imprinting mutations in theGNASlocus (Q37783982) (← links)
- Hypocalcemia in the critically ill patient (Q37917329) (← links)
- Human imprinting syndromes. (Q37962006) (← links)
- Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell. (Q37975122) (← links)
- GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders (Q38248966) (← links)
- Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. (Q38816341) (← links)