Literature DB >> 24715610

Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.

Cindy Hudson1, Corbin Schwanke, John P Johnson, Abdallah F Elias, Sandy Phillips, Tammy Schwalbe, Mary Tunby, Dongbin Xu.   

Abstract

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Year:  2014        PMID： 24715610      PMCID： PMC5004763          DOI： 10.1002/ajmg.a.36548

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  14 in total

1.  An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

Authors:  A Giannotti; M C Digilio; R Mingarelli; B Dallapiccola
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

2.  Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Authors:  G A Wallis; B Rash; B Sykes; J Bonaventure; P Maroteaux; B Zabel; R Wynne-Davies; M E Grant; R P Boot-Handford
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

Review 3.  A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.

Authors:  Rita Mingarelli; Daniela Zuccarello; Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Am J Med Genet A       Date:  2005-07-01       Impact factor: 2.802

Review 4.  Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.

Authors:  M L Guion-Almeida; R M Zechi-Ceide; A Richieri-Costa
Journal:  Clin Dysmorphol       Date:  2000-10       Impact factor: 0.816

5.  Interstitial deletion of 6q21-q23 associated with split hand.

Authors:  M Tsukahara; J Yoneda; R Azuma; K Nakashima; N Kito; K Ouchi; Y Kanehara
Journal:  Am J Med Genet       Date:  1997-03-31

Review 6.  Acro-cardio-facial syndrome.

Authors:  Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2010-09-29       Impact factor: 4.123

7.  Acro-cardio-facial syndrome: a microdeletion syndrome?

Authors:  Benedetta Toschi; Angelo Valetto; Veronica Bertini; Caterina Congregati; Massimiliano Cantinotti; Nadia Assanta; Paolo Simi
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

8.  Clinical variability in acro-cardio-facial-syndrome.

Authors:  Ariana Kariminejad; Bita Bozorgmehr; Mohammad Ali Sedighi Gilani; Navid Almadani; Mohamad Hasan Kariminejad
Journal:  Am J Med Genet A       Date:  2008-08-01       Impact factor: 2.802

9.  4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

Authors:  Dunja Niedrist; Iosif W Lurie; Albert Schinzel
Journal:  Eur J Hum Genet       Date:  2009-02-18       Impact factor: 4.246

10.  Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

Authors:  D L Viljoen; R Smart
Journal:  Clin Dysmorphol       Date:  1993-07       Impact factor: 0.816
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  5 in total

1.  Histone deacetylase 1 and 2 are essential for murine neural crest proliferation, pharyngeal arch development, and craniofacial morphogenesis.

Authors:  Zachary J Milstone; Grace Lawson; Chinmay M Trivedi
Journal:  Dev Dyn       Date:  2017-09-05       Impact factor: 3.780

2.  Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.

Authors:  Giulia Parmeggiani; Stefania Bigoni; Barbara Buldrini; Giampaolo Garani; Luigi Clauser; Manilo Galiè; Alessandra Ferlini; Sergio Fini
Journal:  Mol Syndromol       Date:  2017-09-13

3.  Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.

Authors:  Elisa Tassano; Marisol Mirabelli-Badenier; Edvige Veneselli; Aldamaria Puliti; Margherita Lerone; Carlotta Maria Vaccari; Giovanni Morana; Simona Porta; Giorgio Gimelli; Cristina Cuoco
Journal:  Mol Cytogenet       Date:  2015-04-28       Impact factor: 2.009

4.  Exome chip analyses in adult attention deficit hyperactivity disorder.

Authors:  T Zayats; K K Jacobsen; R Kleppe; C P Jacob; S Kittel-Schneider; M Ribasés; J A Ramos-Quiroga; V Richarte; M Casas; N R Mota; E H Grevet; M Klein; J Corominas; J Bralten; T Galesloot; A A Vasquez; S Herms; A J Forstner; H Larsson; G Breen; P Asherson; S Gross-Lesch; K P Lesch; S Cichon; M B Gabrielsen; O L Holmen; C H D Bau; J Buitelaar; L Kiemeney; S V Faraone; B Cormand; B Franke; A Reif; J Haavik; S Johansson
Journal:  Transl Psychiatry       Date:  2016-10-18       Impact factor: 6.222

5.  Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC.

Authors:  Dinka Smajlagić; Kaya Kvarme Jacobsen; Craig Myrum; Jan Haavik; Stefan Johansson; Tetyana Zayats
Journal:  Brain Behav       Date:  2018-10-31       Impact factor: 2.708
  5 in total

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