Disease: Hypoparathyroidism familial isolated
- <em>CDC73</em>-Related Disorders
- 22q11.2 deletion detected by <em>in situ</em> hybridization in Mexican patients with velocardiofacial syndrome-like features
- A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
- A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11
- A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals
- A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism
- A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism
- A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation
- A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
- Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism
- Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study
- Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism
- Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance
- Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea
- Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis
- Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus
- Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
- Barakat syndrome revisited
- Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases
- Cloning, chromosome mapping and expression analysis of the HIRA gene from Drosophila melanogaster
- Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations
- Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling
- Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders
- DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin
- DiGeorge syndrome: new insights
- Evaluation of serum osteocalcin as an index of altered bone metabolism
- Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature
- Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism
- Familial 18 centromere variant resulting in difficulties in interpreting prenatal interphase FISH
- Familial isolated hypoparathyroidism
- Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB
- Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons
- Familial isolated hypoparathyroidism: case report with serum PTHrP examination
- Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion
- Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy
- Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission
- Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form
- Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity
- Focused image-guided parathyroidectomy in the current management of primary hyperparathyroidism
- Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia
- GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone
- Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study
- Genetic factors in isolated and syndromic laryngeal cleft
- Genetic homogeneity of autoimmune polyglandular disease type I
- Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA
- Genetics of monogenic disorders of calcium and bone metabolism
- Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism
- Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism
- Homozygous missense variant of <em>PTH</em> (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child
- Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome
- Hypoparathyroidism and central diabetes insipidus: in search of the link
- Hypoparathyroidism and Pseudohypoparathyroidism
- Hypoparathyroidism: Genetics and Diagnosis
- Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism
- Identification and evaluation of mental retardation
- Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome
- Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism
- Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- Identification of rare and frequent variants of the CASR gene by high-resolution melting
- Idiopathic hypoparathyroidism (isolated)
- Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein
- Is immediate prophylactic thyroidectomy indispensable in familiar medullary thyroid carcinoma?
- Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
- Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit
- Isolation of a Drosophila T-box gene closely related to human TBX1
- Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome
- Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
- Lack of mutations of preproparathyroid hormone gene in three kindreds with familial isolated hypoparathyroidism
- Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism
- Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143
- Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
- Microdeletion 22q11 in complex cardiovascular malformations
- Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid
- Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants
- Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
- Neurodegeneration: Microglia: Nf-Kappab Signaling Pathways
- Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study
- Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders
- Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism
- Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
- Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature
- Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members
- Prevalence of the RAPGEF5 c.2624C>A and PLOD1 c.2032G>A variants associated with equine familial isolated hypoparathyroidism and fragile foal syndrome in the US Thoroughbred population (1988-2019)
- Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance
- Primary juvenile hyperparathyroidism. Report of 24 cases
- Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib
- Recombinant human parathyroid hormone therapy (1-34) in an adult patient with a gain-of-function mutation in the calcium-sensing receptor-a case report
- Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene
- Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
- Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone
- Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism
- Spectrum of primary immune deficiency at a tertiary care hospital
- Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region
- Surgical approach to the patient with familial hyperparathyroidism
- T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome
- The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism
- The calcium-sensing receptor (CaR) permits Ca2+ to function as a versatile extracellular first messenger
- The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics
- Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region
- Video assisted prophylactic thyroidectomy and central compartment nodes clearance in two RET gene mutation adult carriers