Literature DB >> 14966388

Genetics of endocrine and metabolic disorders: parathyroid.

R V Thakker1.   

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Year:  2004        PMID： 14966388     DOI： 10.1023/B:REMD.0000016123.21743.fe

Source DB:  PubMed          Journal:  Rev Endocr Metab Disord        ISSN： 1389-9155            Impact factor:   6.514


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  88 in total

1.  DiGeorge anomaly associated with 10p deletion.

Authors:  G Monaco; C Pignata; E Rossi; O Mascellaro; S Cocozza; F Ciccimarra
Journal:  Am J Med Genet       Date:  1991-05-01

2.  Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

Authors:  B E Hayward; V Moran; L Strain; D T Bonthron
Journal:  Proc Natl Acad Sci U S A       Date:  1998-12-22       Impact factor: 11.205

3.  A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

Authors:  W Gong; B S Emanuel; J Collins; D H Kim; Z Wang; F Chen; G Zhang; B Roe; M L Budarf
Journal:  Hum Mol Genet       Date:  1996-06       Impact factor: 6.150

4.  Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study.

Authors:  E D Hsi; L R Zukerberg; W I Yang; A Arnold
Journal:  J Clin Endocrinol Metab       Date:  1996-05       Impact factor: 5.958

5.  HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Authors:  J D Carpten; C M Robbins; A Villablanca; L Forsberg; S Presciuttini; J Bailey-Wilson; W F Simonds; E M Gillanders; A M Kennedy; J D Chen; S K Agarwal; R Sood; M P Jones; T Y Moses; C Haven; D Petillo; P D Leotlela; B Harding; D Cameron; A A Pannett; A Höög; H Heath; L A James-Newton; B Robinson; R J Zarbo; B M Cavaco; W Wassif; N D Perrier; I B Rosen; U Kristoffersson; P D Turnpenny; L-O Farnebo; G M Besser; C E Jackson; H Morreau; J M Trent; R V Thakker; S J Marx; B T Teh; C Larsson; M R Hobbs
Journal:  Nat Genet       Date:  2002-11-18       Impact factor: 38.330

6.  Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.

Authors:  L S Weinstein; P V Gejman; E Friedman; T Kadowaki; R M Collins; E S Gershon; A M Spiegel
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

Review 7.  Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.

Authors:  V L Cryns; S M Yi; H Tahara; R D Gaz; A Arnold
Journal:  Genes Chromosomes Cancer       Date:  1995-05       Impact factor: 5.006

8.  Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs.

Authors:  Philippe Bertolino; Ivan Radovanovic; Huguette Casse; Adriano Aguzzi; Zhao-Qi Wang; Chang-Xian Zhang
Journal:  Mech Dev       Date:  2003-05       Impact factor: 1.882

9.  Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Authors:  M R Pollak; E M Brown; Y H Chou; S C Hebert; S J Marx; B Steinmann; T Levi; C E Seidman; J G Seidman
Journal:  Cell       Date:  1993-12-31       Impact factor: 41.582

10.  The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

Authors:  H Jüppner; E Schipani; M Bastepe; D E Cole; M L Lawson; M Mannstadt; G N Hendy; H Plotkin; H Koshiyama; T Koh; J D Crawford; B R Olsen; M Vikkula
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-29       Impact factor: 11.205
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  7 in total

1.  Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research.

Authors:  John P Bilezikian; Aliya Khan; John T Potts; Maria Luisa Brandi; Bart L Clarke; Dolores Shoback; Harald Jüppner; Pierre D'Amour; John Fox; Lars Rejnmark; Leif Mosekilde; Mishaela R Rubin; David Dempster; Rachel Gafni; Michael T Collins; Jim Sliney; James Sanders
Journal:  J Bone Miner Res       Date:  2011-10       Impact factor: 6.741

2.  Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.

Authors:  Mi Yeon Kim; Alice Hyun Kyung Tan; Chang-Seok Ki; Ji In Lee; Hye Won Jang; Hyun Won Shin; Sun Wook Kim; Yong-Ki Min; Myung-Shik Lee; Moon-Kyu Lee; Kwang-Won Kim; Jae Hoon Chung
Journal:  J Korean Med Sci       Date:  2010-01-19       Impact factor: 2.153

3.  Therapy of hypoparathyroidism with intact parathyroid hormone.

Authors:  M R Rubin; J Sliney; D J McMahon; S J Silverberg; J P Bilezikian
Journal:  Osteoporos Int       Date:  2010-01-22       Impact factor: 4.507

4.  An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

Authors:  Michael R Bowl; M Andrew Nesbit; Brian Harding; Elaine Levy; Andrew Jefferson; Emanuela Volpi; Karine Rizzoti; Robin Lovell-Badge; David Schlessinger; Michael P Whyte; Rajesh V Thakker
Journal:  J Clin Invest       Date:  2005-09-15       Impact factor: 14.808

5.  Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

Authors:  R Guerreiro; J Brás; S Batista; P Pires; M H Ribeiro; M R Almeida; C Oliveira; J Hardy; I Santana
Journal:  Genes Brain Behav       Date:  2016-08-24       Impact factor: 3.449

Review 6.  PPoma Review: Epidemiology, Aetiopathogenesis, Prognosis and Treatment.

Authors:  Thais Ligiero Braga; Ralph Santos-Oliveira
Journal:  Diseases       Date:  2018-01-11

7.  Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report.

Authors:  Ahmad F Alenezi; Mariam A Almelahi; Feten Fekih-Romdhana; Haitham A Jahrami
Journal:  J Med Case Rep       Date:  2022-10-10
  7 in total

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