Literature DB >> 25569381

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.

Paul Kruszka1, Rachel A Hart, Donald W Hadley, Maximilian Muenke, Mutaz B Habal.   

Abstract

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Year:  2015        PMID： 25569381     DOI： 10.1097/SCS.0000000000001377

Source DB:  PubMed          Journal:  J Craniofac Surg        ISSN： 1049-2275            Impact factor:   1.046


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  7 in total

Review 1.  Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Authors:  Ariel F Martinez; Paul S Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-15       Impact factor: 3.908

2.  Molecular testing in holoprosencephaly.

Authors:  Paul Kruszka; Ariel F Martinez; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-17       Impact factor: 3.908

3.  Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Authors:  Tommy Hu; Paul Kruszka; Ariel F Martinez; Jeffrey E Ming; Emily K Shabason; Manu S Raam; Tamim H Shaikh; Daniel E Pineda-Alvarez; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-06       Impact factor: 3.908

4.  New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

Authors:  Viviane Freitas de Castro; Daniel Mattos; Flavia Martinez de Carvalho; Denise Pontes Cavalcanti; Milagros M Duenas-Roque; Juan Llerena; Viviana Raquel Cosentino; Rachel Sayuri Honjo; Julio Cesar Loguercio Leite; Maria Teresa Sanseverino; Márcia Pereira Alves de Souza; Pricila Bernardi; Ana Maria Bolognese; Luiz Carlos Santana da Silva; Pablo Barbero; Patricia Santana Correia; Larissa Souza Mario Bueno; Clarice Pagani Savastano; Iêda Maria Orioli
Journal:  Mol Syndromol       Date:  2021-06-15

5.  Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies.

Authors:  Mark Micale; Bedford Embrey; Katie Hubbell; Kelly Beaudry-Rogers; Amy Whitten
Journal:  Clin Case Rep       Date:  2017-05-10

6.  Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.

Authors:  Giuseppe Di Stolfo; Maria Accadia; Sandra Mastroianno; Maria P Leone; Orazio Palumbo; Pietro Palumbo; Domenico Potenza; Pasquale Maccarone; Michele Sacco; Aldo Russo; Massimo Carella
Journal:  Mol Genet Genomic Med       Date:  2019-07-25       Impact factor: 2.183

7.  Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.

Authors:  Yonit A Addissie; Angela Troia; Zoe C Wong; Joshua L Everson; Beth A Kozel; Maximilian Muenke; Robert J Lipinski; Kristen M C Malecki; Paul Kruszka
Journal:  Birth Defects Res       Date:  2020-10-28       Impact factor: 2.661
  7 in total

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