Literature DB >> 26690532

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

Dora Steel1, Vincenzo Salpietro, Rahul Phadke, Matthew Pitt, Giulia Gentile, Ahmed Massoud, Leigh Batten, Anu Bashamboo, Ken Mcelreavey, Anand Saggar, Maria Kinali.   

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Year:  2015        PMID： 26690532     DOI： 10.1007/s12041-015-0578-x

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  15 in total

1.  Wiedemann-Steiner syndrome: three further cases.

Authors:  Rainer Koenig; Peter Meinecke; Alma Kuechler; Dieter Schäfer; Dietmar Müller
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

2.  Growth deficiency, mental retardation and unusual facies.

Authors:  C E Steiner; A P Marques
Journal:  Clin Dysmorphol       Date:  2000-04       Impact factor: 0.816

Review 3.  The birth and development of the DNA theory of inheritance: sixty years since the discovery of the structure of DNA.

Authors:  Petter Portin
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

4.  A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.

Authors:  Qinying Cao; Yuanyuan Peng; Jun Ge; Yanhua Zhang; Junzhen Zhu; Lijuan Zhao
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

5.  Roles of the troponin isoforms during indirect flight muscle development in Drosophila.

Authors:  Salam Herojeet Singh; Prabodh Kumar; Nallur B Ramachandra; Upendra Nongthomba
Journal:  J Genet       Date:  2014-08       Impact factor: 1.166

6.  Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

Authors:  K D MacDermot; M A Patton; M J Williams; R M Winter
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

Review 7.  Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.

Authors:  Agata Polizzi; Piero Pavone; Elisabetta Ciancio; Clementina La Rosa; Giovanni Sorge; Martino Ruggieri
Journal:  J Pediatr Endocrinol Metab       Date:  2005-10       Impact factor: 1.634

8.  A new case of hairy elbows syndrome (hypertrichosis cubiti).

Authors:  A Koç; K Karaer; M A Ergün; P Cinaz; E F Perçin
Journal:  Genet Couns       Date:  2007

Review 9.  Hypertrichosis cubiti: two new cases and a review of the literature.

Authors:  R Visser; F A Beemer; R H Veenhoven; J J E M De Nef
Journal:  Genet Couns       Date:  2002

10.  De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Authors:  Samuel P Strom; Reymundo Lozano; Hane Lee; Naghmeh Dorrani; John Mann; Patricia F O'Lague; Nicole Mans; Joshua L Deignan; Eric Vilain; Stanley F Nelson; Wayne W Grody; Fabiola Quintero-Rivera
Journal:  BMC Med Genet       Date:  2014-05-01       Impact factor: 2.103
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  5 in total

1.  Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.

Authors:  Kursat Bora Carman; Emre Kaplan; Cefa Nil Aslan; Sinem Kocagil; Oguz Cilinigr; Coskun Yarar
Journal:  J Pediatr Genet       Date:  2020-09-23

2.  A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.

Authors:  Minghui Chen; Ruihong Liu; Chao Wu; Xunhua Li; Yiming Wang
Journal:  Mol Biol Rep       Date:  2019-06-27       Impact factor: 2.316

3.  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Authors:  Sarah E Sheppard; Ian M Campbell; Margaret H Harr; Nina Gold; Dong Li; Hans T Bjornsson; Julie S Cohen; Jill A Fahrner; Ali Fatemi; Jacqueline R Harris; Catherine Nowak; Cathy A Stevens; Katheryn Grand; Margaret Au; John M Graham; Pedro A Sanchez-Lara; Miguel Del Campo; Marilyn C Jones; Omar Abdul-Rahman; Fowzan S Alkuraya; Jennifer A Bassetti; Katherine Bergstrom; Elizabeth Bhoj; Sarah Dugan; Julie D Kaplan; Nada Derar; Karen W Gripp; Natalie Hauser; A Micheil Innes; Beth Keena; Neslida Kodra; Rebecca Miller; Beverly Nelson; Malgorzata J Nowaczyk; Zuhair Rahbeeni; Shay Ben-Shachar; Joseph T Shieh; Anne Slavotinek; Andrew K Sobering; Mary-Alice Abbott; Dawn C Allain; Louise Amlie-Wolf; Ping Yee Billie Au; Emma Bedoukian; Geoffrey Beek; James Barry; Janet Berg; Jonathan A Bernstein; Cheryl Cytrynbaum; Brian Hon-Yin Chung; Sarah Donoghue; Naghmeh Dorrani; Alison Eaton; Josue A Flores-Daboub; Holly Dubbs; Carolyn A Felix; Chin-To Fong; Jasmine Lee Fong Fung; Balram Gangaram; Amy Goldstein; Rotem Greenberg; Thoa K Ha; Joseph Hersh; Kosuke Izumi; Staci Kallish; Elijah Kravets; Pui-Yan Kwok; Rebekah K Jobling; Amy E Knight Johnson; Jessica Kushner; Bo Hoon Lee; Brooke Levin; Kristin Lindstrom; Kandamurugu Manickam; Rebecca Mardach; Elizabeth McCormick; D Ross McLeod; Frank D Mentch; Kelly Minks; Colleen Muraresku; Stanley F Nelson; Patrizia Porazzi; Pavel N Pichurin; Nina N Powell-Hamilton; Zoe Powis; Alyssa Ritter; Caleb Rogers; Luis Rohena; Carey Ronspies; Audrey Schroeder; Zornitza Stark; Lois Starr; Joan Stoler; Pim Suwannarat; Milen Velinov; Rosanna Weksberg; Yael Wilnai; Neda Zadeh; Dina J Zand; Marni J Falk; Hakon Hakonarson; Elaine H Zackai; Fabiola Quintero-Rivera
Journal:  Am J Med Genet A       Date:  2021-03-30       Impact factor: 2.578

4.  Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.

Authors:  Diana Ramirez-Montaño; Harry Pachajoa
Journal:  Colomb Med (Cali)       Date:  2019-03-30

5.  Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome.

Authors:  Katherine Buchanan; Erin Greenup; Anna C E Hurst; Bhuvana Sunil; Ambika P Ashraf
Journal:  Front Endocrinol (Lausanne)       Date:  2022-10-03       Impact factor: 6.055
  5 in total

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