| P50 | author | Arrate Pereda | Q95985669 |
| | Intza Garin | Q110281888 |
| | Guiomar Perez de Nanclares | Q51014984 |
| P2093 | author name string | Blanca Gener | |
| | Elena Beristain | |
| | Ane Miren Ibañez | |
| | Maria Garcia-Barcina | |
| P2860 | cites work | Brachydactyly | Q21202913 |
| | Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I | Q22010997 |
| | Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 | Q24312925 |
| | Nosology and classification of genetic skeletal disorders: 2010 revision. | Q55117232 |
| | Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib | Q55671096 |
| | Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly | Q56981653 |
| | Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p | Q56982381 |
| | FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome | Q57291766 |
| | Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome | Q57927652 |
| | Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients | Q59328172 |
| | Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus | Q61647743 |
| | New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism | Q61647769 |
| | 1,25-Dihydroxycholecalciferol Deficiency: The Probable Cause of Hypocalcemia and Metabolic Bone Disease in Pseudohypoparathyroidism | Q66883312 |
| | Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone | Q70545807 |
| | Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12 | Q71167669 |
| | Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome | Q72123119 |
| | The renal response to exogenous parathyroid hormone in treated pseudohypoparathyroidism | Q72674568 |
| | Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension | Q77060899 |
| | Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II | Q77501192 |
| | Endocrine significance of short metacarpals | Q79136094 |
| | Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency | Q80954006 |
| | Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH | Q82479046 |
| | Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13) | Q82623402 |
| | Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome | Q84510252 |
| | A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21-12p12.2 by oligonucleotide array CGH | Q84571489 |
| | Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2 | Q84597614 |
| | Mendelian forms of human hypertension and mechanisms of disease | Q24520569 |
| | Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes | Q24675424 |
| | Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome | Q24680164 |
| | Precocious puberty in Turner Syndrome: report of a case and review of the literature | Q26828838 |
| | An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function | Q28181190 |
| | Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance | Q28239792 |
| | Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region | Q28245038 |
| | Acrodysostosis | Q28251422 |
| | Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis | Q28263261 |
| | Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy | Q28296302 |
| | Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly | Q28360510 |
| | Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism | Q28362180 |
| | Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). | Q33419813 |
| | Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics | Q33556335 |
| | Hereditary Brachydactyly Associated with Hypertension | Q33585733 |
| | The tricho-rhino-phalangeal syndrome | Q33586241 |
| | Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13 | Q33677924 |
| | RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37 | Q33678654 |
| | Deletion and point mutations of PTHLH cause brachydactyly type E. | Q33708563 |
| | Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. | Q33905134 |
| | Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis | Q34032076 |
| | Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. | Q34043801 |
| | Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems | Q34050919 |
| | Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report | Q34122918 |
| | Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism | Q34153168 |
| | Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype | Q34364344 |
| | Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting | Q34392715 |
| | Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. | Q34450890 |
| | Trends in age at diagnosis of Turner syndrome | Q34555290 |
| | Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib) | Q34574573 |
| | Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group | Q34574609 |
| | Clinical review: Turner syndrome: updating the paradigm of clinical care | Q34637178 |
| | Chromosome 2q37 deletion: clinical and molecular aspects | Q34696639 |
| | International nosology and classification of constitutional disorders of bone (2001). | Q52113251 |
| | Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation | Q52122835 |
| | Acrodysostosis associated with spinal canal stenosis. | Q52222680 |
| | Monogenic hypertension: lessons from the genome. | Q52963581 |
| | Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension. | Q53003916 |
| | Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. | Q54315268 |
| | Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. | Q55042216 |
| | Autosomal dominant hypertension with brachydactyly: an enigmatic form of monogenic hypertension | Q48439928 |
| | The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads | Q48475441 |
| | Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly | Q48626109 |
| | Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid | Q49085183 |
| | A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. | Q50663299 |
| | PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. | Q50740304 |
| | Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. | Q50740659 |
| | The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis | Q51022710 |
| | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. | Q51311955 |
| | Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome. | Q51744353 |
| | Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. | Q51937177 |
| | Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). | Q51946818 |
| | De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. | Q34873823 |
| | Albright's hereditary osteodystrophy and pseudohypoparathyroidism | Q35050720 |
| | Identification of a novel mutation in a pseudohypoparathyroidism family | Q35125525 |
| | Madelung-like deformity in pseudohypoparathyroidism type 1b | Q35198544 |
| | Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology | Q35213667 |
| | Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly | Q35303331 |
| | Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. | Q35643080 |
| | Exome sequencing identifies PDE4D mutations in acrodysostosis | Q35877826 |
| | Cell microarrays and RNA interference chip away at gene function | Q36141634 |
| | New issues in the diagnosis and management of Turner syndrome | Q36324342 |
| | Genetic "lnc"-age of noncoding RNAs to human disease | Q36357959 |
| | A misplaced lncRNA causes brachydactyly in humans | Q36359866 |
| | 45,X mosaicism in northeast China: a clinical report and review of the literature | Q36714768 |
| | Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 | Q37044350 |
| | The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts | Q37165427 |
| | ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor | Q37275142 |
| | The arterial baroreflex: functional organization and involvement in neurologic disease | Q37327944 |
| | The brachydactylies: a molecular disease family | Q37605716 |
| | Mechanisms of digit formation: Human malformation syndromes tell the story | Q37845326 |
| | Limb skeletal malformations - what the HOX is going on? | Q37904037 |
| | Acrodysostosis. | Q38027790 |
| | Turner Syndrome and apparent absent uterus: a case report and review of the literature | Q38084841 |
| | Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. | Q38363924 |
| | Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. | Q38458980 |
| | Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. | Q39539665 |
| | Regulation of chondrocyte differentiation by ADAMTS-12 metalloproteinase depends on its enzymatic activity. | Q39893806 |
| | Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases | Q39959320 |
| | A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. | Q42005057 |
| | Severely impaired baroreflex-buffering in patients with monogenic hypertension and neurovascular contact | Q42496275 |
| | Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism | Q42522013 |
| | Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family | Q43108960 |
| | TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability | Q43837163 |
| | Arterial hypertension with brachydactyly in a 15-year-old boy. | Q44481326 |
| | Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. | Q44715090 |
| | Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2----q13.3 in human by in situ hybridization | Q45712605 |
| | Brachydactyly and Pseudo-Pseudohypoparathyroidism | Q46280139 |
| | Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations | Q46862502 |
| | Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients | Q47799246 |
| P275 | copyright license | Creative Commons Attribution 2.0 Generic | Q19125117 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P921 | main subject | brachydactyly | Q896643 |
| P5008 | on focus list of Wikimedia project | ScienceSource | Q55439927 |
| P304 | page(s) | 141 | |
| P577 | publication date | 2013-09-12 | |
| P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
| P1476 | title | Brachydactyly E: isolated or as a feature of a syndrome | |
| P478 | volume | 8 | |