Literature DB >> 7473668

Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.

Y Makita, M Masuno, K Maizumi, K Tachibana, Y Kuroki, H Kurahashi.   

Abstract

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Year:  1995        PMID： 7473668      PMCID： PMC1051656          DOI： 10.1136/jmg.32.8.669

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

Review 1.  The DiGeorge anomaly as a developmental field defect.

Authors:  E J Lammer; J M Opitz
Journal:  Am J Med Genet Suppl       Date:  1986

2.  Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.

Authors:  C Desmaze; M Prieur; F Amblard; M Aikem; F LeDeist; S Demczuk; J Zucman; B Plougastel; O Delattre; M F Croquette
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

3.  DiGeorge syndrome: part of CATCH 22.

Authors:  D I Wilson; J Burn; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

4.  Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.

Authors:  L H Seaver; J W Pierpont; R P Erickson; R L Donnerstein; S B Cassidy
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

5.  "CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

Authors:  A Lipson; B Emanuel; P Colley; K Fagan; D A Driscoll
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

6.  Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome.

Authors:  H Kurahashi; K Akagi; K Karakawa; T Nakamura; J P Dumanski; T Sano; S Okada; S Takai; I Nishisho
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

7.  Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.

Authors:  R E Nickel; D A Pillers; M Merkens; R E Magenis; D A Driscoll; B S Emanuel; J Zonana
Journal:  Am J Med Genet       Date:  1994-10-01

8.  Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.

Authors:  G Scirè; B Dallapiccola; P Iannetti; F Bonaiuto; C Galasso; R Mingarelli; B Boscherini
Journal:  Am J Med Genet       Date:  1994-10-01
  8 in total

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