Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 4

Results: 30

Cover Image, Volume 179A, Number 4, April 2019.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. i, doi. 10.1002/ajmg.a.61109

By:

Duffy, Kelly A.;
Sajorda, Brian J.;
Yu, Alice C.;
Hathaway, Evan R.;
Grand, Katheryn L.;
Deardorff, Matthew A.;
Kalish, Jennifer M.

Publication type:

Article

Genomic Screening in Newborns Holds Promise, Challenges: Results of the BabySeq Project demonstrate the potential of newborn genomic screening, but challenges remain.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 519, doi. 10.1002/ajmg.a.61098
Publication type:: Article

Structural Basis Identified for Cholesterol Transport‐Like Activity of the Hedgehog Receptor Patched: New evidence suggests that the Hedgehog receptor Patched may mediate cholesterol removal from the inner leaflet of the plasma membrane using a hydrophobic conduit

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 518, doi. 10.1002/ajmg.a.61097
Publication type:: Article

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 659, doi. 10.1002/ajmg.a.61068

By:

Uehara, Tomoko;
Takenouchi, Toshiki;
Yamaguchi, Yu;
Daimon, Yumi;
Suzuki, Hisato;
Sakaguchi, Yuri;
Kosaki, Kenjiro

Publication type:

Article

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 608, doi. 10.1002/ajmg.a.61072

By:

Aljeaid, Deema;
Sanchez, Ana Isabel;
Wakefield, Emily;
Chadwell, Sarah E.;
Moore, Nicole;
Prada, Carlos E.;
Zhang, Wenying

Publication type:

Article

Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 663, doi. 10.1002/ajmg.a.61071

By:

Deshwar, Ashish R.;
Spielmann, Malte;
Vi, Lisa;
Mendoza‐Londono, Roberto;
Dupuis, Lucie;
Stimec, Jennifer;
Howard, Andrew;
Harrington, Jennifer;
Kannu, Peter

Publication type:

Article

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon‐like autosomal recessive syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 668, doi. 10.1002/ajmg.a.61070

By:

Korakavi, Nisha;
Prokop, Jeremy W.;
Seaver, Laurie H.

Publication type:

Article

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 602, doi. 10.1002/ajmg.a.61069

By:

Kongkriangkai, Alanna M.;
King, Christopher;
Martin, Lisa J.;
Wakefield, Emily;
Prada, Carlos E.;
Kelly‐Mancuso, Geraldine;
Schorry, Elizabeth K.

Publication type:

Article

ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 615, doi. 10.1002/ajmg.a.61073

By:

Glass, Graeme E.;
O'Hara, Justine;
Canham, Natalie;
Cilliers, Deirdre;
Dunaway, David;
Fenwick, Aimee L.;
Jeelani, Noor‐Owase;
Johnson, David;
Lester, Tracy;
Lord, Helen;
Morton, Jenny E. V.;
Nishikawa, Hiroshi;
Noons, Peter;
Schwiebert, Kemmy;
Shipster, Caroleen;
Taylor‐Beadling, Alison;
Twigg, Stephen R. F.;
Vasudevan, Pradeep;
Wall, Steven A.;
Wilkie, Andrew O. M.

Publication type:

Article

Congenital clubfoot in Europe: A population‐based study.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 595, doi. 10.1002/ajmg.a.61067

By:

Wang, Hao;
Barisic, Ingeborg;
Loane, Maria;
Addor, Marie‐Claude;
Bailey, Linda M.;
Gatt, Miriam;
Klungsoyr, Kari;
Mokoroa, Olatz;
Nelen, Vera;
Neville, Amanda J.;
O'Mahony, Mary;
Pierini, Anna;
Rissmann, Anke;
Verellen‐Dumoulin, Christine;
Walle, Hermien E.K.;
Wiesel, Awi;
Wisniewska, Katarzyna;
Jong‐van den Berg, Lolkje T.W.;
Dolk, Helen;
Khoshnood, Babak

Publication type:

Article

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 570, doi. 10.1002/ajmg.a.61061

By:

Nicola, Pantelis;
Blackburn, Patrick R.;
Rasmussen, Kristen J.;
Bertsch, Nicole L.;
Klee, Eric W.;
Hasadsri, Linda;
Pichurin, Pavel N.;
Rankin, Julia;
Raymond, F. Lucy;
Clayton‐Smith, Jill

Publication type:

Article

Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 579, doi. 10.1002/ajmg.a.61065

By:

Koparir, Asuman;
Karatas, Omer Faruk;
Yilmaz, Seda Salman;
Suer, Ilknur;
Ozer, Bugra;
Yuceturk, Betul;
Ozen, Mustafa

Publication type:

Article

Corrigendum to "The human phenotype of ornithine decarboxylase superactivity: a new syndrome".

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 747, doi. 10.1002/ajmg.a.61064

By:

Ferreira, Carlos R.

Publication type:

Article

39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 674, doi. 10.1002/ajmg.a.61063

By:

Boycott, Kym M.;
Innes, A. Micheil

Publication type:

Article

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 542, doi. 10.1002/ajmg.a.61062

By:

Grand, Katheryn;
Gonzalez‐Gandolfi, Christina;
Ackermann, Amanda M.;
Aljeaid, Deema;
Bedoukian, Emma;
Bird, Lynne M.;
De Leon, Diva D.;
Diaz, Jullianne;
Hopkin, Robert J.;
Kadakia, Sejal P.;
Keena, Beth;
Klein, Karen O.;
Krantz, Ian;
Leon, Eyby;
Lord, Katherine;
McDougall, Carey;
Medne, Livija;
Skraban, Cara M.;
Stanley, Charles A.;
Tarpinian, Jennifer

Publication type:

Article

EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 588, doi. 10.1002/ajmg.a.61066

By:

Griffiths, Sara;
Loveday, Chey;
Zachariou, Anna;
Behan, Lucy‐Ann;
Chandler, Kate;
Cole, Trevor;
D'Arrigo, Stefano;
Dieckmann, Andrea;
Foster, Alison;
Gibney, James;
Hunter, Matthew;
Milani, Donatella;
Pantaleoni, Chiara;
Roche, Edna;
Sherlock, Mark;
Springer, Amanda;
White, Susan M.;
Tatton‐Brown, Katrina

Publication type:

Article

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 655, doi. 10.1002/ajmg.a.61060

By:

Murali, Chaya;
Li, Dong;
Grand, Katheryn;
Hakonarson, Hakon;
Bhoj, Elizabeth

Publication type:

Article

Schuurs‐Hoeijmakers syndrome in a patient from India.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 522, doi. 10.1002/ajmg.a.61058

By:

Dutta, Atanu Kumar

Publication type:

Article

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 650, doi. 10.1002/ajmg.a.61057

By:

Poreau, Brice;
Ramond, Francis;
Harbuz, Radu;
Satre, Véronique;
Barro, Claire;
Vettier, Claire;
Adouard, Véronique;
Thevenon, Julien;
Jouk, Pierre‐Simon;
Coutton, Charles;
Touraine, Renaud;
Dieterich, Klaus

Publication type:

Article

A case of early‐onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 645, doi. 10.1002/ajmg.a.61056

By:

Nakashima, Mitsuko;
Negishi, Yutaka;
Hori, Ikumi;
Hattori, Ayako;
Saitoh, Shinji;
Saitsu, Hirotomo

Publication type:

Article

Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 561, doi. 10.1002/ajmg.a.61055

By:

Mu, Weiyi;
Muriello, Michael;
Clemens, Julia L.;
Wang, You;
Smith, Christy H.;
Tran, Phuong T.;
Rowe, Peter C.;
Francomano, Clair A.;
Kline, Antonie D.;
Bodurtha, Joann

Publication type:

Article

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 552, doi. 10.1002/ajmg.a.61054

By:

Bascom, Rebecca;
Schubart, Jane R.;
Mills, Susan;
Smith, Thomas;
Zukley, Linda M.;
Francomano, Clair A.;
McDonnell, Nazli

Publication type:

Article

Beckwith–Wiedemann syndrome in diverse populations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 525, doi. 10.1002/ajmg.a.61053

By:

Duffy, Kelly A.;
Sajorda, Brian J.;
Yu, Alice C.;
Hathaway, Evan R.;
Grand, Katheryn L.;
Deardorff, Matthew A.;
Kalish, Jennifer M.

Publication type:

Article

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 634, doi. 10.1002/ajmg.a.61052

By:

Angius, Andrea;
Uva, Paolo;
Oppo, Manuela;
Persico, Ivana;
Onano, Stefano;
Olla, Stefania;
Pes, Valentina;
Perria, Chiara;
Cuccuru, Gianmauro;
Atzeni, Rossano;
Serra, Gigliola;
Cucca, Francesco;
Sotgiu, Stefano;
Hennekam, Raoul C.;
Crisponi, Laura

Publication type:

Article

Growth failure in focal dermal hypoplasia.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 628, doi. 10.1002/ajmg.a.61051

By:

Hsu, Stephanie C.;
Bartz, Sarah;
Pyle, Laura;
Fete, Mary;
Davis, Shanlee;
Ohman‐Hanson, Rebecca;
Fete, Timothy J.;
Motil, Kathleen J.

Publication type:

Article

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 639, doi. 10.1002/ajmg.a.61050

By:

Bizaoui, Varoona;
Huber, Céline;
Kohaut, Eva;
Roume, Joelle;
Bonnière, Maryse;
Attié‐Bitach, Tania;
Cormier‐Daire, Valérie

Publication type:

Article

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 534, doi. 10.1002/ajmg.a.61049

By:

Dasa, Vinod;
Eastwood, James R.B.;
Podgorski, Michal;
Park, Heewon;
Blackstock, Christopher;
Antoshchenko, Tetyana;
Rogala, Piotr;
Bieganski, Tadeusz;
Jazwinski, S. Michal;
Czarny‐Ratajczak, Malwina

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 521, doi. 10.1002/ajmg.a.40444
Publication type:: Article

Publication schedule for 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 517, doi. 10.1002/ajmg.a.40443
Publication type:: Article

Table of Contents, Volume 179A, Number 4, April 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 513, doi. 10.1002/ajmg.a.40442
Publication type:: Article