Literature DB >> 30498854

A unique case of CHARGE syndrome with craniosynostosis.

Loizos Siakallis1, Ai Peng Tan2, Raouf Chorbachi3, Kshitij Mankad4.   

Abstract

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Year:  2018        PMID： 30498854     DOI： 10.1007/s00381-018-4005-5

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


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  5 in total

Review 1.  Genetics of craniofacial development and malformation.

Authors:  A O Wilkie; G M Morriss-Kay
Journal:  Nat Rev Genet       Date:  2001-06       Impact factor: 53.242

Review 2.  CHARGEd with neural crest defects.

Authors:  Silke Pauli; Ruchi Bajpai; Annette Borchers
Journal:  Am J Med Genet C Semin Med Genet       Date:  2017-10-30       Impact factor: 3.908

3.  CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

Authors:  Tara L Wenger; Margaret Harr; Stefania Ricciardi; Elizabeth Bhoj; Avni Santani; Margaret P Adam; Sarah S Barnett; Rebecca Ganetzky; Donna M McDonald-McGinn; Domenica Battaglia; Stefania Bigoni; Angelo Selicorni; Giovanni Sorge; Matteo Della Monica; Francesca Mari; Elena Andreucci; Silvia Romano; Guido Cocchi; Salvatore Savasta; Baris Malbora; Giuseppe Marangi; Livia Garavelli; Marcella Zollino; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2014-08-14       Impact factor: 2.802

Review 4.  CHARGE syndrome: an update.

Authors:  Damien Sanlaville; Alain Verloes
Journal:  Eur J Hum Genet       Date:  2007-02-14       Impact factor: 4.246

5.  Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Authors:  Linlea Armstrong; Azza Abd El Moneim; Kirk Aleck; David J Aughton; Clarisse Baumann; Stephen R Braddock; Gabriele Gillessen-Kaesbach; John M Graham; Theresa A Grebe; Karen W Gripp; Bryan D Hall; Raoul Hennekam; Alasdair Hunter; Kim Keppler-Noreuil; Didier Lacombe; Angela E Lin; Jeffrey E Ming; Nancy Mizue Kokitsu-Nakata; Sarah M Nikkel; Nicole Philip; Annick Raas-Rothschild; Annemarie Sommer; Alain Verloes; Claudia Walter; Dagmar Wieczorek; Marc S Williams; Elaine Zackai; Judith E Allanson
Journal:  Am J Med Genet A       Date:  2005-01-30       Impact factor: 2.802
  5 in total
  2 in total

1.  Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Authors:  Ilaria Parenti; Daphné Lehalle; Christel Depienne; Cyril Mignot; Caroline Nava; Erin Torti; Elsa Leitão; Richard Person; Takeshi Mizuguchi; Naomichi Matsumoto; Mitsuhiro Kato; Kazuyuki Nakamura; Stella A de Man; Heidi Cope; Vandana Shashi; Jennifer Friedman; Pascal Joset; Katharina Steindl; Anita Rauch; Irena Muffels; Peter M van Hasselt; Florence Petit; Thomas Smol; Gwenaël Le Guyader; Frédéric Bilan; Arthur Sorlin; Antonio Vitobello; Christophe Philippe; Ingrid M B H van de Laar; Marjon A van Slegtenhorst; Philippe M Campeau; Ping Yee Billie Au; Mitsuko Nakashima; Hirotomo Saitsu; Tatsuya Yamamoto; Yumiko Nomura; Raymond J Louie; Michael J Lyons; Amy Dobson; Astrid S Plomp; M Mahdi Motazacker; Frank J Kaiser; Andrew T Timberlake; Sabine A Fuchs
Journal:  Hum Genet       Date:  2021-05-04       Impact factor: 4.132

2.  Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Authors:  Elin Tønne; Bernt Johan Due-Tønnessen; Inger-Lise Mero; Ulrikke Straume Wiig; Mari Ann Kulseth; Magnus Dehli Vigeland; Ying Sheng; Charlotte von der Lippe; Kristian Tveten; Torstein Ragnar Meling; Eirik Helseth; Ketil Riddervold Heimdal
Journal:  Eur J Hum Genet       Date:  2020-12-07       Impact factor: 4.246
  2 in total

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