Literature DB >> 10364539

Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.

K Devriendt, J Jaeken, G Matthijs, H Van Esch, P Debeer, M Gewillig, J P Fryns.   

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Year:  1999        PMID： 10364539      PMCID： PMC1378097          DOI： 10.1086/302452

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

1.  Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Authors:  F R Goodman; C Bacchelli; A F Brady; L A Brueton; J P Fryns; D P Mortlock; J W Innis; L B Holmes; A E Donnenfeld; M Feingold; F A Beemer; R C Hennekam; P J Scambler
Journal:  Am J Hum Genet       Date:  2000-06-05       Impact factor: 11.025

2.  A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

Authors:  Frances R Goodman; Frank Majewski; Amanda L Collins; Peter J Scambler
Journal:  Am J Hum Genet       Date:  2002-01-03       Impact factor: 11.025

3.  The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.

Authors:  P Debeer; E F P M Schoenmakers; W O Twal; W S Argraves; L De Smet; J P Fryns; W J M Van De Ven
Journal:  J Med Genet       Date:  2002-02       Impact factor: 6.318

4.  Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Authors:  Morten Dunø; Hanne Hove; Maria Kirchhoff; Koenraad Devriendt; Marianne Schwartz
Journal:  Hum Genet       Date:  2004-09-18       Impact factor: 4.132

5.  Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.

Authors:  H Fryssira; P Makrythanasis; A Kattamis; K Stokidis; B Menten; K Kosaki; P Willems; E Kanavakis
Journal:  Mol Syndromol       Date:  2011-11-12

Review 6.  The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches.

Authors:  Daniel Guerrier; Thomas Mouchel; Laurent Pasquier; Isabelle Pellerin
Journal:  J Negat Results Biomed       Date:  2006-01-27

7.  HOXA genes cluster: clinical implications of the smallest deletion.

Authors:  Lidia Pezzani; Donatella Milani; Francesca Manzoni; Marco Baccarin; Rosamaria Silipigni; Silvana Guerneri; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2015-04-10       Impact factor: 2.638

8.  A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Authors:  Christopher M Watson; Laura A Crinnion; Sally M Harrison; Carolina Lascelles; Agne Antanaviciute; Ian M Carr; David T Bonthron; Eamonn Sheridan
Journal:  PLoS One       Date:  2016-06-07       Impact factor: 3.240

9.  7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

Authors:  Emiy Yokoyama; Dennise Lesley Smith-Pellegrin; Silvia Sánchez; Bertha Molina; Alfredo Rodríguez; Rocío Juárez; Esther Lieberman; Silvia Avila; José Luis Castrillo; Victoria Del Castillo; Sara Frías
Journal:  Mol Cytogenet       Date:  2017-11-15       Impact factor: 2.009

10.  Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina).

Authors:  Agnès Burel; Thomas Mouchel; Sylvie Odent; Filiz Tiker; Bertrand Knebelmann; Isabelle Pellerin; Daniel Guerrier
Journal:  J Negat Results Biomed       Date:  2006-03-23
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