Literature DB >> 8230154

DiGeorge syndrome: an historical review of clinical and cytogenetic features.

F Greenberg1.   

Abstract

Entities:  

Mesh：

Year:  1993        PMID： 8230154      PMCID： PMC1016558          DOI： 10.1136/jmg.30.10.803

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


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  23 in total

1.  Congenital absence of the parathyroid glands.

Authors:  D H LOBDELL
Journal:  AMA Arch Pathol       Date:  1959-04

Review 2.  Contiguous gene syndromes: a component of recognizable syndromes.

Authors:  R D Schmickel
Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

3.  Spectrum of the DiGeorge "syndrome".

Authors:  J C Carey
Journal:  J Pediatr       Date:  1980-05       Impact factor: 4.406

4.  Congenital absence of the parathyroid and thymus glands in an infant. (3 and 4 pharyngeal pouch syndrome).

Authors:  L S Taitz; C Zarate-Salvador; E Schwartz
Journal:  Pediatrics       Date:  1966-09       Impact factor: 7.124

5.  A deletion in chromosome 22 can cause DiGeorge syndrome.

Authors:  A de la Chapelle; R Herva; M Koivisto; P Aula
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.

Authors:  F Greenberg; W E Crowder; V Paschall; J Colon-Linares; B Lubianski; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

Authors:  R I Kelley; E H Zackai; B S Emanuel; M Kistenmacher; F Greenberg; H H Punnett
Journal:  J Pediatr       Date:  1982-08       Impact factor: 4.406

8.  The spectrum of the DiGeorge syndrome.

Authors:  M E Conley; J B Beckwith; J F Mancer; L Tenckhoff
Journal:  J Pediatr       Date:  1979-06       Impact factor: 4.406

9.  Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

Authors:  P Moerman; P Goddeeris; J Lauwerijns; L G Van der Hauwaert
Journal:  Br Heart J       Date:  1980-10

10.  Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

Authors:  L H Van Mierop; L M Kutsche
Journal:  Am J Cardiol       Date:  1986-07-01       Impact factor: 2.778
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  19 in total

Review 1.  How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease.

Authors:  Alvin J Chin; Jean-Pierre Saint-Jeannet; Cecilia W Lo
Journal:  Mech Dev       Date:  2012-05-26       Impact factor: 1.882

2.  Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.

Authors:  K S Reddy; V Sulcova; B Siassi
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

3.  [Genetic causes in mild speech acquisition delay with/without mild developmental delay: significance for ENT physicians].

Authors:  C Schwemmle; U Schwemmle; M Ptok
Journal:  HNO       Date:  2010-04       Impact factor: 1.284

Review 4.  Velocardiofacial syndrome.

Authors:  A C Pike; M Super
Journal:  Postgrad Med J       Date:  1997-12       Impact factor: 2.401

5.  Isomerism of the atrial appendages associated with 22q11 deletion in a fetus.

Authors:  R W Yates; F L Raymond; A Cook; G K Sharland
Journal:  Heart       Date:  1996-12       Impact factor: 5.994

Review 6.  22q11 deletion syndrome: a genetic subtype of schizophrenia.

Authors:  A S Bassett; E W Chow
Journal:  Biol Psychiatry       Date:  1999-10-01       Impact factor: 13.382

7.  A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.

Authors:  G Calabrese; P G Franchi; L Stuppia; R Mingarelli; C Rossi; L Ramenghi; M Marino; E Morizio; R Peila; A Antonucci
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

8.  Velocardiofacial syndrome and DiGeorge sequence.

Authors:  R J Shprintzen
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

9.  Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

Authors:  J O Van Hemel; C Schaap; D Van Opstal; M P Mulder; M F Niermeijer; J H Meijers
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

10.  22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Authors:  F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132
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