Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 2

Results: 30

COMMENTARY—The Saul–Wilson syndrome from its early days until now.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 159, doi. 10.1002/ajmg.a.8

By:

Saul, Robert A.;
Wilson, William G.

Publication type:

Article

Cover Image, Volume 179A, Number 2, February 2019.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. i, doi. 10.1002/ajmg.a.61059

By:

Hartley, Jessica N.;
Simard, Louise R.;
Ly, Valentina;
Del Bigio, Marc R.;
Frosk, Patrick

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 149, doi. 10.1002/ajmg.a.61042
Publication type:: Article

De Novo Mutations have Variable Recurrences Within Families.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 147, doi. 10.1002/ajmg.a.61041
Publication type:: Article

POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann‐Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal‐recessive WRS.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 146, doi. 10.1002/ajmg.a.61040
Publication type:: Article

Cornelia de Lange syndrome in diverse populations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 150, doi. 10.1002/ajmg.a.61033

By:

Dowsett, Leah;
Porras, Antonio R.;
Kruszka, Paul;
Davis, Brandon;
Hu, Tommy;
Honey, Engela;
Badoe, Eben;
Thong, Meow‐Keong;
Leon, Eyby;
Girisha, Katta M.;
Shukla, Anju;
Nayak, Shalini S.;
Shotelersuk, Vorasuk;
Megarbane, Andre;
Phadke, Shubha;
Sirisena, Nirmala D.;
Dissanayake, Vajira H. W.;
Ferreira, Carlos R.;
Kisling, Monisha S.;
Tanpaiboon, Pranoot

Publication type:

Article

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 237, doi. 10.1002/ajmg.a.61021

By:

Abdel‐Hamid, Mohamed S.;
Ismail, Samira;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.;
Otaify, Ghada A.;
Issa, Mahmoud Y.;
Abdel‐Kader, Mohamed;
Girgis, Marian;
Aboul‐Ezz, Eman;
Mazen, Inas;
Aglan, Mona S.;
Temtamy, Samia A.

Publication type:

Article

Simpson–Golabi–Behmel syndrome in a 39‐year‐old male patient with suspected acromegaly—A case study.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 322, doi. 10.1002/ajmg.a.61013

By:

Andrysiak‐Mamos, Elżbieta;
Sagan, Karol Piotr;
Lietz‐Kijak, Danuta;
Kijak, Edward;
Kaźmierczak, Beata;
Pietrzyk, Aleksandra;
Sowinska‐Przepiera, Elżbieta;
Sagan, Leszek;
Syrenicz, Anhelli

Publication type:

Article

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 249, doi. 10.1002/ajmg.a.61012

By:

Tangarorang, Jodilee;
Leonard, Helen;
Epstein, Amy;
Downs, Jenny

Publication type:

Article

Many newborns in level IV NICUs are eligible for rapid DNA sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 280, doi. 10.1002/ajmg.a.61011

By:

Kapil, Sasha;
Fishler, Kristen P.;
Euteneuer, Joshua C.;
Brunelli, Luca

Publication type:

Article

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 295, doi. 10.1002/ajmg.a.60700

By:

Rath, Matthias;
Spiegler, Stefanie;
Strom, Tim M.;
Trenkler, Johannes;
Kroisel, Peter Michael;
Felbor, Ute

Publication type:

Article

Parents' perceptions of functional abilities in people with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 161, doi. 10.1002/ajmg.a.61004

By:

Graaf, Gert;
Levine, Susan P.;
Goldstein, Richard;
Skotko, Brian G.

Publication type:

Article

Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 224, doi. 10.1002/ajmg.a.61003

By:

Smith, Ann C. M.;
Morse, Rebecca S.;
Introne, Wendy;
Duncan, Wallace C.

Publication type:

Article

SCAPER‐associated nonsyndromic autosomal recessive retinitis pigmentosa.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 312, doi. 10.1002/ajmg.a.61001

By:

Jauregui, Ruben;
Thomas, Amanda L.;
Liechty, Benjamin;
Velez, Gabriel;
Mahajan, Vinit B.;
Clark, Lorraine;
Tsang, Stephen H.

Publication type:

Article

A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 306, doi. 10.1002/ajmg.a.61000

By:

Giorgio, Elisa;
Sirchia, Fabio;
Bosco, Martino;
Sobreira, Nara Lygia M.;
Grosso, Enrico;
Brussino, Alessandro;
Brusco, Alfredo

Publication type:

Article

Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 317, doi. 10.1002/ajmg.a.61006

By:

Castori, Marco;
Fiorillo, Chiara;
Agolini, Emanuele;
Sacco, Michele;
Minetti, Carlo;
Novelli, Antonio;
Guglielmi, Giuseppe;
Bertini, Enrico

Publication type:

Article

The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 300, doi. 10.1002/ajmg.a.60698

By:

Feldman, Hailey R.;
Dlouhy, Stephen R.;
Lah, Melissa D.;
Payne, Katelyn K.;
Weaver, David D.

Publication type:

Article

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 219, doi. 10.1002/ajmg.a.60696

By:

Schott, Dina A.;
Stumpel, Constance T. R. M.;
Klaassens, Merel

Publication type:

Article

Cenani–Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 266, doi. 10.1002/ajmg.a.60694

By:

Al‐Qattan, Mohammad M.;
Alkuraya, Fowzan S.

Publication type:

Article

A homozygous MITF mutation leads to familial Waardenburg syndrome type 4.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 243, doi. 10.1002/ajmg.a.60693

By:

Pang, Xiuhong;
Zheng, Xiaoyong;
Kong, Xuhui;
Chai, Yongchuan;
Wang, Yu;
Qian, Hua;
Yang, Bo;
Wu, Chao;
Chu, Jiusheng;
Yang, Tao

Publication type:

Article

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 206, doi. 10.1002/ajmg.a.60690

By:

Hartley, Jessica N.;
Simard, Louise R.;
Ly, Valentina;
Del Bigio, Marc R.;
Frosk, Patrick

Publication type:

Article

Novel truncating variants expand the phenotypic spectrum of KAT6B‐related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 290, doi. 10.1002/ajmg.a.60689

By:

Brea‐Fernández, Alejandro;
Dacruz, David;
Eirís, Jesús;
Barros, Francisco;
Carracedo, Ángel

Publication type:

Article

Contributing factors of mortality in Prader–Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 196, doi. 10.1002/ajmg.a.60688

By:

Proffitt, Jennifer;
Osann, Kathryn;
McManus, Barbara;
Kimonis, Virginia E.;
Heinemann, Janalee;
Butler, Merlin G.;
Stevenson, David A.;
Gold, June‐Anne

Publication type:

Article

Gynecologic health in cartilage‐hair hypoplasia: A survey of 26 adult females.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 190, doi. 10.1002/ajmg.a.60684

By:

Holopainen, Elina;
Vakkilainen, Svetlana;
Mäkitie, Outi

Publication type:

Article

Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 257, doi. 10.1002/ajmg.a.60683

By:

Bell, Chris;
Nevitt, Sarah;
McKay, Victoria H.;
Fattah, Adel Y.

Publication type:

Article

Simpson–Golabi–Behmel syndrome with 46,XY disorders of sex development: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 285, doi. 10.1002/ajmg.a.40669

By:

Fu, Qian;
Wang, Hui;
Qi, Zhan;
Zhang, Yaxin

Publication type:

Article

Publication schedule for 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 145, doi. 10.1002/ajmg.a.40437
Publication type:: Article

Table of Contents, Volume 179A, Number 2, February 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 141, doi. 10.1002/ajmg.a.40436
Publication type:: Article

High‐level language competencies and Theory of Mind in a group of children with Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 183, doi. 10.1002/ajmg.a.12

By:

Melogno, Sergio;
Pinto, M. Antonietta;
Badolato, Fausto;
Sist, Eleonora;
Esposito, Antonella;
Orsolini, Margherita;
Tarani, Luigi

Publication type:

Article

Clinical identification of feeding and swallowing disorders in 0–6 month old infants with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 177, doi. 10.1002/ajmg.a.11

By:

Stanley, Maria A.;
Shepherd, Nicole;
Duvall, Nichole;
Jenkinson, Sandra B.;
Jalou, Hasnaa E.;
Givan, Deborah C.;
Steele, Gregory H.;
Davis, Charlene;
Bull, Marilyn J.;
Watkins, Donna U.;
Roper, Randall J.

Publication type:

Article