Literature DB >> 5480972

Autosomal deletion syndrome 46,XX,18p-: a new case report with absence of IgA in serum.

P Fischer, E Golob, F Friedrich, E Kunze-Mühl, W Doleschel, H Aichmair.   

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Year:  1970        PMID： 5480972      PMCID： PMC1468926          DOI： 10.1136/jmg.7.1.91

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


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  33 in total

1.  IgA absence associated with a ring-18 chromosome.

Authors:  S C Finley; W H Finley; T A Noto; I A Uchida; R F Roddam
Journal:  Lancet       Date:  1968-05-18       Impact factor: 79.321

2.  [On a case of partial deletion of the short arm of chromosome 18, resulting in a familial 18c-17 translocation].

Authors:  J Lejeune; R Berger; M O Rethoré; P Paolini; J Boisse; P Mozziconacci
Journal:  Ann Genet       Date:  1966

3.  [Deletion of the short arm of chromosome 18].

Authors:  J de Grouchy; J Bonnette; C Salmon
Journal:  Ann Genet       Date:  1966

4.  Short arm deletion of chromosome 18 in cebocephaly.

Authors:  R J Gorlin; J Yunis; V E Anderson
Journal:  Am J Dis Child       Date:  1968-04

5.  Arrhinencephaly associated with a deficiency involving chromosome 18.

Authors:  A McDermott; J Insley; M E Barton; P Roowe; J H Edwards; A H Cameron
Journal:  J Med Genet       Date:  1968-03       Impact factor: 6.318

6.  [Deletion of the short arms of chromosome No. 18].

Authors:  R A Pfeiffer
Journal:  Humangenetik       Date:  1966

7.  [Deletion of the short arms of chromosome No. 18].

Authors:  E Schleiermacher; T M Schroeder
Journal:  Humangenetik       Date:  1966

8.  Partial 18 monosomy in the cyclops malformation.

Authors:  H M Nitowsky; N Sindhvananda; U R Konigsberg; T Weinberg
Journal:  Pediatrics       Date:  1966-02       Impact factor: 7.124

9.  [Deletion of the short arms of chromosome 18].

Authors:  H Coetsier; E Orye
Journal:  Maandschr Kindergeneeskd       Date:  1967-11

10.  Chromosomal mosaicism associated with a case of cyclopia.

Authors:  M M Cohen
Journal:  J Pediatr       Date:  1966-11       Impact factor: 4.406
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  7 in total

Review 1.  [Ring chromosome 18. 18p-/18q- -deletion-syndrome].

Authors:  J Kunze; E Stephan; M Tolksdorf
Journal:  Humangenetik       Date:  1972

Review 2.  Partial monosomies 18. Review of cytogenetical and phenotypical variants.

Authors:  I W Lurie; G I Lazjuk
Journal:  Humangenetik       Date:  1972

Review 3.  Malformations of kidney and urinary tract in common chromosomal aberrations. II. Morphogenetic studies.

Authors:  G Töndury
Journal:  Humangenetik       Date:  1973-03-23

4.  Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult.

Authors:  M J Faed; R Whyte; C R Paterson; M McCathie; J Robertson
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318

5.  Dicentric chromosome due to an unusual fusion.

Authors:  I Subrt; B Blehová; O Táborský
Journal:  Humangenetik       Date:  1971

6.  Genetic aspects of selective immunoglobulin A deficiency.

Authors:  F J Grundbacher
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

7.  Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.

Authors:  Akbar Mohammadzadeh; Susan Akbaroghli; Ehsan Aghaei-Moghadam; Nejat Mahdieh; Reza Shervin Badv; Payman Jamali; Roxana Kariminejad; Zahra Chavoshzadeh; Saghar Ghasemi Firouzabadi; Roxana Mansour Ghanaie; Ahoura Nozari; Sussan Banihashemi; Fatemeh Hadipour; Zahra Hadipour; Ariana Kariminejad; Hossein Najmabadi; Yousef Shafeghati; Farkhondeh Behjati
Journal:  Cell J       Date:  2019-06-15       Impact factor: 2.479
  7 in total

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