Literature DB >> 25338707

Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation?

Nisha Patel1, Fowzan S Alkuraya.   

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Year:  2014        PMID: 25338707     DOI: 10.1002/ajmg.a.36804

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


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  7 in total

1.  Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Authors:  Erfan Aref-Eshghi; David I Rodenhiser; Laila C Schenkel; Hanxin Lin; Cindy Skinner; Peter Ainsworth; Guillaume Paré; Rebecca L Hood; Dennis E Bulman; Kristin D Kernohan; Kym M Boycott; Philippe M Campeau; Charles Schwartz; Bekim Sadikovic
Journal:  Am J Hum Genet       Date:  2018-01-04       Impact factor: 11.025

2.  Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Authors:  Dustin Baldridge; Rebecca C Spillmann; Daniel J Wegner; Jennifer A Wambach; Frances V White; Kathleen Sisco; Tomi L Toler; Patricia I Dickson; F Sessions Cole; Vandana Shashi; Dorothy K Grange
Journal:  Am J Med Genet A       Date:  2020-02-21       Impact factor: 2.802

3.  Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.

Authors:  Sonoko Sakata; Satoshi Okada; Kohei Aoyama; Keiichi Hara; Chihiro Tani; Reiko Kagawa; Akari Utsunomiya-Nakamura; Shinichiro Miyagawa; Tsutomu Ogata; Haruo Mizuno; Masao Kobayashi
Journal:  Front Genet       Date:  2017-12-11       Impact factor: 4.599

4.  The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:  Dorota Monies; Mohamed Abouelhoda; Moeenaldeen AlSayed; Zuhair Alhassnan; Maha Alotaibi; Husam Kayyali; Mohammed Al-Owain; Ayaz Shah; Zuhair Rahbeeni; Mohammad A Al-Muhaizea; Hamad I Alzaidan; Edward Cupler; Saeed Bohlega; Eissa Faqeih; Maha Faden; Banan Alyounes; Dyala Jaroudi; Ewa Goljan; Hadeel Elbardisy; Asma Akilan; Renad Albar; Hesham Aldhalaan; Shamshad Gulab; Aziza Chedrawi; Bandar K Al Saud; Wesam Kurdi; Nawal Makhseed; Tahani Alqasim; Heba Y El Khashab; Hamoud Al-Mousa; Amal Alhashem; Imaduddin Kanaan; Talal Algoufi; Khalid Alsaleem; Talal A Basha; Fathiya Al-Murshedi; Sameena Khan; Adila Al-Kindy; Maha Alnemer; Sami Al-Hajjar; Suad Alyamani; Hasan Aldhekri; Ali Al-Mehaidib; Rand Arnaout; Omar Dabbagh; Mohammad Shagrani; Dieter Broering; Maha Tulbah; Amal Alqassmi; Maisoon Almugbel; Mohammed AlQuaiz; Abdulaziz Alsaman; Khalid Al-Thihli; Raashda A Sulaiman; Wajeeh Al-Dekhail; Abeer Alsaegh; Fahad A Bashiri; Alya Qari; Suzan Alhomadi; Hisham Alkuraya; Mohammed Alsebayel; Muddathir H Hamad; Laszlo Szonyi; Faisal Abaalkhail; Sulaiman M Al-Mayouf; Hamad Almojalli; Khalid S Alqadi; Hussien Elsiesy; Taghreed M Shuaib; Mohammed Zain Seidahmed; Ibraheem Abosoudah; Hana Akleh; Abdulaziz AlGhonaium; Turki M Alkharfy; Fuad Al Mutairi; Wafa Eyaid; Abdullah Alshanbary; Farrukh R Sheikh; Fahad I Alsohaibani; Abdullah Alsonbul; Saeed Al Tala; Soher Balkhy; Randa Bassiouni; Ahmed S Alenizi; Maged H Hussein; Saeed Hassan; Mohamed Khalil; Brahim Tabarki; Saad Alshahwan; Amira Oshi; Yasser Sabr; Saad Alsaadoun; Mustafa A Salih; Sarar Mohamed; Habiba Sultana; Abdullah Tamim; Moayad El-Haj; Saif Alshahrani; Dalal K Bubshait; Majid Alfadhel; Tariq Faquih; Mohamed El-Kalioby; Shazia Subhani; Zeeshan Shah; Nabil Moghrabi; Brian F Meyer; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2017-06-09       Impact factor: 4.132

5.  CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Authors:  Darci T Butcher; Cheryl Cytrynbaum; Andrei L Turinsky; Michelle T Siu; Michal Inbar-Feigenberg; Roberto Mendoza-Londono; David Chitayat; Susan Walker; Jerry Machado; Oana Caluseriu; Lucie Dupuis; Daria Grafodatskaya; William Reardon; Brigitte Gilbert-Dussardier; Alain Verloes; Frederic Bilan; Jeff M Milunsky; Raveen Basran; Blake Papsin; Tracy L Stockley; Stephen W Scherer; Sanaa Choufani; Michael Brudno; Rosanna Weksberg
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025

6.  An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

Authors:  Bas Penders; Dieuwerke R Dijk; Gianni Bocca; Luc J I Zimmermann; Conny M A van Ravenswaaij-Arts; Willem-Jan M Gerver
Journal:  Am J Med Genet A       Date:  2019-05-27       Impact factor: 2.802

7.  Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Authors:  Rachel T Stadelmaier; Margaret A Kenna; Devon Barrett; Thomas E Mullen; Olaf Bodamer; Pankaj B Agrawal; Caroline D Robson; Monica H Wojcik
Journal:  Am J Med Genet A       Date:  2021-08-09       Impact factor: 2.802

  7 in total

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