Literature DB >> 3573007

Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q.

P Meinecke, R Meinecke.   

Abstract

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Year:  1987        PMID： 3573007      PMCID： PMC1049959          DOI： 10.1136/jmg.24.3.187

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


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  1 in total

1.  Syndromes with cleft lip and cleft palate.

Authors:  M M Cohen
Journal:  Cleft Palate J       Date:  1978-10
  1 in total
  6 in total

1.  Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.

Authors:  E Chouery; N Choucair; J Abou Ghoch; S El Sabbagh; S Corbani; A Mégarbané
Journal:  Mol Syndromol       Date:  2013-01-15

2.  Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.

Authors:  Sarah Vergult; Danijela Krgovic; Bart Loeys; Stanislas Lyonnet; Agne Liedén; Britt-Marie Anderlid; Freddie Sharkey; Shelagh Joss; Geert Mortier; Björn Menten
Journal:  Eur J Hum Genet       Date:  2011-04-20       Impact factor: 4.246

3.  Deletion (12)(q15q21.2).

Authors:  M S Watson; L McAllister-Barton; M J Mahoney; W R Breg
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

4.  Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

Authors:  M Masuno; K Imaizumi; G Nishimura; M Nakamura; I Saito; K Akagi; Y Kuroki
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

5.  Phenotype-genotype correlation in two patients with 12q proximal deletion.

Authors:  Noriko Miyake; Hidefumi Tonoki; Marta Gallego; Naoki Harada; Osamu Shimokawa; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2004       Impact factor: 3.172

6.  A New 12q21 Deletion Syndrome: A Case Report and Literature Review.

Authors:  Alessandra Di Nora; Greta De Costa; Alessia Di Mari; Marco Montemagno; Vito Pavone; Piero Pavone
Journal:  Glob Med Genet       Date:  2022-07-21
  6 in total

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