Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 2

Results: 22

Cover Image, Volume 182A, Number 2, February 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. N.PAG, doi. 10.1002/ajmg.a.61472
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 278, doi. 10.1002/ajmg.a.61471
Publication type:: Article

Turner syndrome in diverse populations.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 303, doi. 10.1002/ajmg.a.61461

By:

Kruszka, Paul;
Addissie, Yonit A.;
Tekendo‐Ngongang, Cedrik;
Jones, Kelly L.;
Savage, Sarah K.;
Gupta, Neerja;
Sirisena, Nirmala D.;
Dissanayake, Vajira H. W.;
Paththinige, C. Sampath;
Aravena, Teresa;
Nampoothiri, Sheela;
Yesodharan, Dhanya;
Girisha, Katta M.;
Patil, Siddaramappa Jagdish;
Jamuar, Saumya Shekhar;
Goh, Jasmine Chew‐Yin;
Utari, Agustini;
Sihombing, Nydia;
Mishra, Rupesh;
Chitrakar, Neer Shoba

Publication type:

Article

Computational Approach can Increase the Power of Human Genetic Analysis.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 276, doi. 10.1002/ajmg.a.61470
Publication type:: Article

Renpenning syndrome in an Indian patient.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 293, doi. 10.1002/ajmg.a.61457

By:

Masih, Suzena;
Moirangthem, Amita;
Phadke, Shubha R.

Publication type:

Article

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 296, doi. 10.1002/ajmg.a.61447

By:

Wei, Heming;
Wee, Lynette W. Y.;
Born, Bori;
Seang, Sokheng;
Koh, Mark J. A.;
Yee, Ruixiang;
Lin, Grace;
Rafi'ee, Khadijah;
Mey, Sithach;
Tan, Ene‐Choo

Publication type:

Article

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 357, doi. 10.1002/ajmg.a.61429

By:

Lee, Chung‐Lin;
Tan, Louis Tan Hock‐Cheong;
Lin, Hsiang‐Yu;
Hwu, Wuh‐Liang;
Lee, Ni‐Chung;
Chien, Yin‐Hsiu;
Chuang, Chih‐Kuang;
Wu, Mei‐Hwan;
Wang, Jou‐Kou;
Chu, Shao‐Yin;
Lin, Ju‐Li;
Lo, Fu‐Sung;
Su, Pen‐Hua;
Hsu, Chia‐Chi;
Ko, Yu‐Yuan;
Chen, Ming‐Ren;
Chiu, Hui‐Ching;
Lin, Shuan‐Pei

Publication type:

Article

A prenatally diagnosed case of Donnai‐Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 289, doi. 10.1002/ajmg.a.61428

By:

Ozdemir, Halis;
Plamondon, Jenna;
Gaskin, Peter;
Asoglu, Mehmet R.;
Turan, Sifa

Publication type:

Article

Providing more evidence on LZTR1 variants in Noonan syndrome patients.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 409, doi. 10.1002/ajmg.a.61445

By:

Chinton, Josefina;
Huckstadt, Victoria;
Mucciolo, Mafalda;
Lepri, Francesca;
Novelli, Antonio;
Gravina, Luis Pablo;
Obregon, María Gabriela

Publication type:

Article

Receiving the news of Down syndrome in the era of prenatal testing.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 374, doi. 10.1002/ajmg.a.61438

By:

Crombag, Neeltje MTH;
Page‐Christiaens, Godelieve CML;
Skotko, Brian G.;
Graaf, Gert

Publication type:

Article

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 365, doi. 10.1002/ajmg.a.61433

By:

Wild, K. Taylor;
Goldstein, Amy C.;
Muraresku, Colleen;
Ganetzky, Rebecca D.

Publication type:

Article

Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 328, doi. 10.1002/ajmg.a.61430

By:

Lin, Angela E.;
Alali, Abdulrazak;
Starr, Lois J.;
Shah, Nidhi;
Beavis, Anna;
Pereira, Elaine M.;
Lindsay, Mark E.;
Klugman, Susan

Publication type:

Article

Marfan syndrome: Evolving organ manifestations—A 10‐year follow‐up study.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 397, doi. 10.1002/ajmg.a.61441

By:

Vanem, Thy Thy;
Böker, Tordis;
Sandvik, Gunhild F.;
Kirkhus, Eva;
Smith, Hans‐Jørgen;
Andersen, Kai;
Drolsum, Liv;
Lundby, Rigmor;
Røe, Cecilie;
Krohg‐Sørensen, Kirsten;
Geiran, Odd R.;
Paus, Benedicte;
Rand‐Hendriksen, Svend

Publication type:

Article

A mixed methods study of physical activity and quality of life in adolescents with Turner syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 386, doi. 10.1002/ajmg.a.61439

By:

Thompson, Talia;
Zieba, Brianna;
Howell, Susan;
Karakash, William;
Davis, Shanlee

Publication type:

Article

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 348, doi. 10.1002/ajmg.a.61427

By:

Topa, Alexandra;
Rohlin, Anna;
Andersson, Mattias K.;
Fehr, André;
Lovmar, Lovisa;
Stenman, Göran;
Kölby, Lars

Publication type:

Article

Fetoplacental ratios in stillbirths and second trimester miscarriages.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 322, doi. 10.1002/ajmg.a.61426

By:

McPherson, Elizabeth

Publication type:

Article

The duty to warn at‐risk relatives—The experience of genetic counselors and medical geneticists.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 314, doi. 10.1002/ajmg.a.61425

By:

Perry, Tabitha J.;
Patton, Samantha I.;
Farmer, Meagan B.;
Hurst, Christina B.;
McGwin, Gerald;
Robin, Nathaniel H.

Publication type:

Article

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 338, doi. 10.1002/ajmg.a.61414

By:

Girisha, Katta M.;
Bhavani, Gandham S.;
Shah, Hitesh;
Moirangthem, Amita;
Shukla, Anju;
Kim, Ok‐Hwa;
Nishimura, Gen;
Mortier, Geert R.

Publication type:

Article

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 279, doi. 10.1002/ajmg.a.61412

By:

Rethanavelu, Kavitha;
Fung, Jasmine L. F.;
Chau, Jeffrey F. T.;
Pei, Steven L. C.;
Chung, Claudia C. Y.;
Mak, Christopher C. Y.;
Luk, Ho M.;
Chung, Brian H. Y.

Publication type:

Article

Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus".

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 275, doi. 10.1002/ajmg.a.61223
Publication type:: Article

Publication schedule for 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 274, doi. 10.1002/ajmg.a.61222
Publication type:: Article

Table of Contents, Volume 182A, Number 2, February 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 271, doi. 10.1002/ajmg.a.61221
Publication type:: Article