Literature DB >> 33514815

Focused Revision: ACMG practice resource: Genetic evaluation of short stature.

Cassie S Mintz1, Laurie H Seaver2, Mira Irons3, Adda Grimberg4, Reymundo Lozano5.   

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Year:  2021        PMID： 33514815     DOI： 10.1038/s41436-020-01046-0

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  32 in total

1.  Medically underserved girls receive less evaluation for short stature.

Authors:  Adda Grimberg; Kristen A Feemster; Susmita Pati; Mark Ramos; Robert Grundmeier; Andrew J Cucchiara; Virginia A Stallings
Journal:  Pediatrics       Date:  2011-03-21       Impact factor: 7.124

2.  Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.

Authors:  Thais K Homma; Ana C V Krepischi; Tatiane K Furuya; Rachel S Honjo; Alexsandra C Malaquias; Debora R Bertola; Silvia S Costa; Ana P Canton; Rosimeire A Roela; Bruna L Freire; Chong A Kim; Carla Rosenberg; Alexander A L Jorge
Journal:  Horm Res Paediatr       Date:  2017-11-09       Impact factor: 2.852

3.  Sex differences in patients referred for evaluation of poor growth.

Authors:  Adda Grimberg; Jessica Katz Kutikov; Andrew J Cucchiara
Journal:  J Pediatr       Date:  2005-02       Impact factor: 4.406

Review 4.  Genetic causes of isolated short stature.

Authors:  Gabriela A Vasques; Nathalia L M Andrade; Alexander A L Jorge
Journal:  Arch Endocrinol Metab       Date:  2019-02       Impact factor: 2.309

5.  Overview of DNA microarrays: types, applications, and their future.

Authors:  Roger Bumgarner
Journal:  Curr Protoc Mol Biol       Date:  2013-01

6.  Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Authors:  Ana P M Canton; Sílvia S Costa; Tatiane C Rodrigues; Debora R Bertola; Alexsandra C Malaquias; Fernanda A Correa; Ivo J P Arnhold; Carla Rosenberg; Alexander A L Jorge
Journal:  Eur J Endocrinol       Date:  2014-05-30       Impact factor: 6.664

7.  Copy number variants in short children born small for gestational age.

Authors:  Jan M Wit; Hermine A van Duyvenvoorde; Jan B van Klinken; Janina Caliebe; Cathy A J Bosch; Julian C Lui; Antoinet C J Gijsbers; Egbert Bakker; Martijn H Breuning; Wilma Oostdijk; Monique Losekoot; Jeffrey Baron; Gerhard Binder; Michael B Ranke; Claudia A L Ruivenkamp
Journal:  Horm Res Paediatr       Date:  2014-10-08       Impact factor: 2.852

8.  Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).

Authors:  Daniela Del Gaudio; Marwan Shinawi; Caroline Astbury; Marwan K Tayeh; Kristen L Deak; Gordana Raca
Journal:  Genet Med       Date:  2020-04-16       Impact factor: 8.822

9.  Rare copy number variants are a common cause of short stature.

Authors:  Diana Zahnleiter; Steffen Uebe; Arif B Ekici; Juliane Hoyer; Antje Wiesener; Dagmar Wieczorek; Erdmute Kunstmann; André Reis; Helmuth-Guenther Doerr; Anita Rauch; Christian T Thiel
Journal:  PLoS Genet       Date:  2013-03-14       Impact factor: 5.917

10.  ACMG practice guideline: genetic evaluation of short stature.

Authors:  Laurie H Seaver; Mira Irons
Journal:  Genet Med       Date:  2009-06       Impact factor: 8.822
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  1 in total

Review 1.  Provocative growth hormone testing in children: how did we get here and where do we go now?

Authors:  Camilia Kamoun; Colin Patrick Hawkes; Adda Grimberg
Journal:  J Pediatr Endocrinol Metab       Date:  2021-04-12       Impact factor: 1.520
  1 in total

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