Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 8

Results: 21

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1700, doi. 10.1002/ajmg.a.40629
Publication type:: Article

Cover Image, Volume 176A, Number 8, August 2018.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1, doi. 10.1002/ajmg.a.40529

By:

Ankala, Arunkanth;
Jain, Nieraj;
Hubbard, Baker;
Alexander, John J.;
Shankar, Suma P.

Publication type:

Article

Nucleic Acid–Targeted Small Molecules have Therapeutic Potential in the Treatment of Spinal Muscular Atrophy: Small‐molecule drugs that can selectively bind RNA and modulate pre‐mRNA splicing have potential as a treatment strategy for human disease, including spinal muscular atrophy

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1698, doi. 10.1002/ajmg.a.40520
Publication type:: Article

Formate Supplementation May Prevent Some Neural Tube Defects that Prove Resistant to Folic Acid: Supplementation with formate rescued normal neural tube closure in more than three quarters of the embryos of novel folic acid‐resistant neural tube defect mouse models

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1697, doi. 10.1002/ajmg.a.40519
Publication type:: Article

Cole‐Carpenter syndrome in a patient from Thailand.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1706, doi. 10.1002/ajmg.a.40358

By:

Porntaveetus, Thantrira;
Theerapanon, Thanakorn;
Srichomthong, Chalurmpon;
Shotelersuk, Vorasuk

Publication type:

Article

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1778, doi. 10.1002/ajmg.a.38855

By:

Ankala, Arunkanth;
Jain, Nieraj;
Hubbard, Baker;
Alexander, John J.;
Shankar, Suma P.

Publication type:

Article

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1711, doi. 10.1002/ajmg.a.38854

By:

Levin, Mark D.;
Saitta, Sulagna C.;
Gripp, Karen W.;
Wenger, Tara L.;
Ganesh, Jaya;
Kalish, Jennifer M.;
Epstein, Michael R.;
Smith, Rosemarie;
Czosek, Richard J.;
Ware, Stephanie M.;
Goldenberg, Paula;
Myers, Angela;
Chatfield, Kathryn C.;
Gillespie, Matthew J.;
Zackai, Elaine H.;
Lin, Angela E.

Publication type:

Article

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1723, doi. 10.1002/ajmg.a.38853

By:

Merker, Andrea;
Neumeyer, Luitgard;
Hertel, Niels Thomas;
Grigelioniene, Giedre;
Mäkitie, Outi;
Mohnike, Klaus;
Hagenäs, Lars

Publication type:

Article

Pulmonary hypertension in patients with 9q34.3 microdeletion‐associated Kleefstra syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1773, doi. 10.1002/ajmg.a.38852

By:

Okur, Volkan;
Nees, Shannon;
Chung, Wendy K.;
Krishnan, Usha

Publication type:

Article

A case of severe TBCE‐negative hypoparathyroidism‐retardation‐dysmorphism syndrome: Case report and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1768, doi. 10.1002/ajmg.a.38851

By:

Ryabets‐Lienhard, Anna;
Issaranggoon na Ayuthaya, Satja;
Graham, John M.;
Pitukcheewanont, Pisit

Publication type:

Article

Eduardo E. Castilla (1933–2017): El grande TROESMA*.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1701, doi. 10.1002/ajmg.a.38847

By:

Cavalcanti, Denise Pontes

Publication type:

Article

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937–2018).

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1703, doi. 10.1002/ajmg.a.38845

By:

Carey, John C.;
Hennekam, Raoul C. M.;
Lin, Angela E.;
Barr, Jr., Mason

Publication type:

Article

A 69‐year‐old woman with Coffin–Siris syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1764, doi. 10.1002/ajmg.a.38844

By:

Määttänen, Laura;
Hietala, Marja;
Ignatius, Jaakko;
Arvio, Maria

Publication type:

Article

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1760, doi. 10.1002/ajmg.a.38843

By:

Renard, Dimitri;
Taieb, Guillaume;
Garibaldi, Matteo;
Maues De Paula, Andre;
Bernard, Rafaelle;
Lagha, Nadira;
Cristofari, Gael;
Vovan, Catherine;
Chaix, Charlène;
Lévy, Nicolas;
Khau Van Kien, Philippe;
Sacconi, Sabrina

Publication type:

Article

A recognizable phenotype related to 19p13.12 microdeletion.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1753, doi. 10.1002/ajmg.a.38842

By:

de Souza, Laiara Cristina;
Sgardioli, Ilária Cristina;
Gil‐da‐Silva‐Lopes, Vera Lúcia;
Vieira, Társis Paiva

Publication type:

Article

In reply to “Short‐rib syndrome Beemer‐Langer type, a short history”.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1784, doi. 10.1002/ajmg.a.38841

By:

Cavalcanti, Denise P.

Publication type:

Article

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1748, doi. 10.1002/ajmg.a.38840

By:

Rogers, Amanda;
Golumbek, Paul;
Cellini, Elena;
Doccini, Viola;
Guerrini, Renzo;
Wallgren‐Pettersson, Carina;
Thuresson, Ann‐Charlotte;
Gurnett, Christina A.

Publication type:

Article

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1735, doi. 10.1002/ajmg.a.38665

By:

Schindewolf, Erica;
Khalek, Nahla;
Johnson, Mark P.;
Gebb, Juliana;
Coleman, Beverly;
Crowley, Terrence Blaine;
Zackai, Elaine H.;
McDonald‐McGinn, Donna M.;
Moldenhauer, Julie S.

Publication type:

Article

Non‐pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1742, doi. 10.1002/ajmg.a.38612

By:

Buijs, Petra C. M.;
Bassett, Anne S.;
Boot, Erik

Publication type:

Article

Publication schedule for 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1696, doi. 10.1002/ajmg.a.38443
Publication type:: Article

Table of Contents, Volume 176A, Number 8, August 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1693, doi. 10.1002/ajmg.a.38442
Publication type:: Article