Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 4

Results: 42

Cover Image, Volume 182A, Number 4, April 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. i, doi. 10.1002/ajmg.a.61527
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 618, doi. 10.1002/ajmg.a.61526
Publication type:
Article
PPP1R12A Pathogenic Variants Associated with Human Congenital Malformations Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 616, doi. 10.1002/ajmg.a.61525
Publication type:
Article
40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 877, doi. 10.1002/ajmg.a.61514
By:
- Braddock, Stephen R.;
- Lipinski, Robert J.;
- Carey, John C.
Publication type:
Article
Grandparental genotyping enhances exome variant interpretation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 689, doi. 10.1002/ajmg.a.61511
By:
- Daum, Hagit;
- Mor‐Shaked, Hagar;
- Ta‐Shma, Asaf;
- Shaag, Avraham;
- Silverstein, Shira;
- Shohat, Mordechai;
- Elpeleg, Orly;
- Meiner, Vardiella;
- Harel, Tamar
Publication type:
Article
MECP2 duplication syndrome in a patient from Cameroon.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 619, doi. 10.1002/ajmg.a.61510
By:
- Tekendo‐Ngongang, Cedrik;
- Dahoun, Sophie;
- Nguefack, Séraphin;
- Moix, Isabelle;
- Gimelli, Stefania;
- Zambo, Huguette;
- Morris, Michael A.;
- Sloan‐Béna, Frédérique;
- Wonkam, Ambroise
Publication type:
Article
Further delineation of METTL23‐associated intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 785, doi. 10.1002/ajmg.a.61503
By:
- Almannai, Mohammed;
- Obaid, Osama;
- Faqeih, Eissa;
- Alasmari, Ali;
- Samman, Manar M.;
- Pinz, Hailey;
- Braddock, Stephen R.;
- Alkuraya, Fowzan S.
Publication type:
Article
Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 659, doi. 10.1002/ajmg.a.61499
By:
- Oto, Yuji;
- Murakami, Nobuyuki;
- Matsubara, Keiko;
- Saima, Sohei;
- Ogata, Hiroyuki;
- Ihara, Hiroshi;
- Nagai, Toshiro;
- Matsubara, Tomoyo
Publication type:
Article
The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 831, doi. 10.1002/ajmg.a.61493
By:
- Anbouba, Grace M.;
- Carmany, Erin P.;
- Natoli, Jaime L.
Publication type:
Article
Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 842, doi. 10.1002/ajmg.a.61497
By:
- Chougui, Khadidja;
- Addab, Sofia;
- Palomo, Telma;
- Morin, Suzanne N.;
- Veilleux, Louis‐Nicolas;
- Bernstein, Mitchell;
- Thorstad, Kelly;
- Hamdy, Reggie;
- Tsimicalis, Argerie
Publication type:
Article
Genetic evaluation including exome sequencing of two patients with Gomez‐Lopez‐Hernandez syndrome: Case reports and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 623, doi. 10.1002/ajmg.a.61496
By:
- Lindsay, Faith;
- Anderson, Ilse;
- Wentzensen, Ingrid M.;
- Suhrbier, David;
- Stevens, Cathy A.
Publication type:
Article
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 773, doi. 10.1002/ajmg.a.61495
By:
- Midro, Alina T.;
- Stasiewicz‐Jarocka, Beata;
- Borys, Jan;
- Hubert, Ewa;
- Skotnicka, Bożena;
- Hassmann‐Poznańska, Elżbieta;
- Sierpińska, Teresa;
- Panasiuk, Barbara;
- Schanze, Denny;
- Zenker, Martin
Publication type:
Article
Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 768, doi. 10.1002/ajmg.a.61494
By:
- Gabbett, Michael T.;
- Jeavons, Cassandra J.;
- Gray, Peter H.
Publication type:
Article
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 780, doi. 10.1002/ajmg.a.61498
By:
- D'Gama, Alissa M.;
- Brucker, William J.;
- Zhang, Tian;
- Gubbels, Cynthia S.;
- Ferdinandusse, Sacha;
- Shi, Jiahai;
- Grant, Patricia Ellen;
- VanNoy, Grace;
- Genetti, Casie A.;
- Juusola, Jane;
- Yu, Timothy W.;
- Kritzer, Amy;
- Agrawal, Pankaj B.
Publication type:
Article
KPTN gene homozygous variant‐related syndrome in the northeast of Brazil: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 762, doi. 10.1002/ajmg.a.61492
By:
- Lucena, Pedro H.;
- Armani‐Franceschi, Giulia;
- Bispo‐Torres, Ana Cecília;
- Bandeira, Igor D.;
- Lucena, Mariana F. G.;
- Maldonado, Igor;
- Veiga, Marielza F.;
- Miguel, Diego;
- Lucena, Rita
Publication type:
Article
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 755, doi. 10.1002/ajmg.a.61491
By:
- Birjiniuk, Alona;
- Glinton, Kevin E.;
- Villafranco, Natalie;
- Boyer, Suzanne;
- Laufman, Jason;
- Mizerik, Elizabeth;
- Scott, Daryl;
- Elsea, Sarah H.;
- Galambos, Csaba;
- Varghese, Nidhy P.;
- Scaglia, Fernando
Publication type:
Article
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 746, doi. 10.1002/ajmg.a.61490
By:
- Sheppard, Sarah E.;
- Smith, Anna;
- Grand, Katheryn;
- Pogoriler, Jennifer;
- Rubin, Adam I.;
- Schindewolf, Erica;
- Fitzgerald, Mark P.;
- Moldenhauer, Julie;
- Laje, Pablo;
- Peranteau, William;
- Bhoj, Elizabeth;
- McMahon, Patrick;
- Castelo‐Soccio, Leslie
Publication type:
Article
A Turkish patient with novel AHCY variants and presumed diagnosis of S‐adenosylhomocysteine hydrolase deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 740, doi. 10.1002/ajmg.a.61489
By:
- Bas, Hasan;
- Cilingir, Oguz;
- Tekin, Neslihan;
- Saylisoy, Suzan;
- Durak Aras, Beyhan;
- Uzay, Elif;
- Erzurumluoglu Gokalp, Ebru;
- Artan, Sevilhan
Publication type:
Article
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 705, doi. 10.1002/ajmg.a.61488
By:
- Yıldız, Yılmaz;
- Arslan, Mutluay;
- Çelik, Gökalp;
- Kasapkara, Çiğdem Seher;
- Ceylaner, Serdar;
- Dursun, Ali;
- Sivri, Hatice Serap;
- Coşkun, Turgay;
- Tokatlı, Ayşegül
Publication type:
Article
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 792, doi. 10.1002/ajmg.a.61487
By:
- Assoum, Mirna;
- Bruel, Ange‐Line;
- Crenshaw, Melissa L.;
- Delanne, Julian;
- Wentzensen, Ingrid M.;
- McWalter, Kirsty;
- Dent, Karin M.;
- Vitobello, Antonio;
- Kuentz, Paul;
- Thevenon, Julien;
- Duffourd, Yannis;
- Thauvin‐Robinet, Christel;
- Faivre, Laurence
Publication type:
Article
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 823, doi. 10.1002/ajmg.a.61486
By:
- Peron, Angela;
- Novara, Francesca;
- La Briola, Francesca;
- Merati, Elisabetta;
- Giannusa, Emanuela;
- Segalini, Elena;
- Anniballi, Gloria;
- Vignoli, Aglaia;
- Ciccone, Roberto;
- Canevini, Maria Paola
Publication type:
Article
Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 866, doi. 10.1002/ajmg.a.61485
By:
- Gross, Andrea M.;
- Frone, Megan;
- Gripp, Karen W.;
- Gelb, Bruce D.;
- Schoyer, Lisa;
- Schill, Lisa;
- Stronach, Beth;
- Biesecker, Leslie G.;
- Esposito, Dominic;
- Hernandez, Edjay Ralph;
- Legius, Eric;
- Loh, Mignon L.;
- Martin, Staci;
- Morrison, Deborah K.;
- Rauen, Katherine A.;
- Wolters, Pamela L.;
- Zand, Dina;
- McCormick, Frank;
- Savage, Sharon A.;
- Stewart, Douglas R.
Publication type:
Article
Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 713, doi. 10.1002/ajmg.a.61483
By:
- Kanani, Farah;
- Titheradge, Hannah;
- Cooper, Nicola;
- Elmslie, Frances;
- Lees, Melissa M.;
- Juusola, Jane;
- Pisani, Laura;
- McKenna, Carolyn;
- Mignot, Cyril;
- Valence, Stephanie;
- Keren, Boris;
- Lachlan, Katherine;
- Balasubramanian, Meena
Publication type:
Article
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 813, doi. 10.1002/ajmg.a.61482
By:
- Hu, Jie;
- Ou, Zhishuo;
- Surti, Urvashi;
- Kochmar, Sally;
- Hoffner, Lori;
- Madan‐Khetarpal, Suneeta;
- Arnold, Georgianne L.;
- Walsh, Leslie;
- Acquaro, Roxanne;
- Sebastian, Jessica;
- Yatsenko, Svetlana A.
Publication type:
Article
Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 721, doi. 10.1002/ajmg.a.61481
By:
- Yang, Chia‐Feng;
- Niu, Dau‐Ming;
- Tai, Shyh‐Kuan;
- Wang, Ting‐Hao;
- Su, Hsiao‐Ting;
- Huang, Ling‐Yi;
- Soong, Wen‐Jue
Publication type:
Article
First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 628, doi. 10.1002/ajmg.a.61480
By:
- Díaz‐González, Francisca;
- Parrón‐Pajares, Manuel;
- Barcia‐Ramirez, Ana;
- Heath, Karen E.
Publication type:
Article
White vitreous opacities in five patients with Gaucher disease type 3.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 808, doi. 10.1002/ajmg.a.61479
By:
- Seehra, Gurpreet K.;
- Eghbali, Areian;
- Sidransky, Ellen;
- FitzGibbon, Edmond
Publication type:
Article
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 730, doi. 10.1002/ajmg.a.61478
By:
- Pölsler, Laura;
- Schatz, Ulrich A.;
- Simma, Burkhard;
- Zschocke, Johannes;
- Rudnik‐Schöneborn, Sabine
Publication type:
Article
Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 632, doi. 10.1002/ajmg.a.61477
By:
- Mubungu, Gerrye;
- Lumaka, Aimé;
- Mvuama, Nono;
- Tshika, Dahlie;
- Makay, Prince;
- Tshilobo, Prosper Lukusa;
- Devriendt, Koenraad
Publication type:
Article
Tatton‐Brown‐Rahman syndrome: Six individuals with novel features.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 673, doi. 10.1002/ajmg.a.61475
By:
- Balci, Tugce B.;
- Strong, Alana;
- Kalish, Jennifer M.;
- Zackai, Elaine;
- Maris, John M.;
- Reilly, Anne;
- Surrey, Lea F.;
- Wertheim, Gerald B.;
- Marcadier, Julien L.;
- Graham, Gail E.;
- Carter, Melissa T.
Publication type:
Article
Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 829, doi. 10.1002/ajmg.a.61474
By:
- McInerney‐Leo, Aideen M.;
- West, Jennifer A.;
- McGill, Jim J.;
- Brown, Matthew A.;
- Duncan, Emma L.;
- West, Malcolm J.
Publication type:
Article
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 804, doi. 10.1002/ajmg.a.61473
By:
- Radhakrishnan, Periyasamy;
- Shukla, Anju;
- Girisha, Katta M.;
- Nayak, Shalini S.
Publication type:
Article
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 735, doi. 10.1002/ajmg.a.61469
By:
- Sato, Taisuke;
- Kojima, Takashi;
- Samura, Osamu;
- Kawaguchi, Satoshi;
- Nakamura, Akie;
- Nakajima, Masahiro;
- Tanuma‐Takahashi, Akiko;
- Nakabayashi, Kazuhiko;
- Hata, Kenichiro;
- Ikegawa, Shiro;
- Nishimura, Gen;
- Okamoto, Aikou;
- Yamada, Takahiro
Publication type:
Article
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 664, doi. 10.1002/ajmg.a.61468
By:
- Lemire, Gabrielle T.;
- Beauregard‐Lacroix, Éliane;
- Campeau, Philippe M.;
- Parent, Stefan;
- Roy‐Beaudry, Marjolaine;
- Soglio, Dorothée Dal;
- Grignon, Andrée;
- Rypens, Françoise;
- Wavrant, Sandrine;
- Laberge, Anne‐Marie;
- Delrue, Marie‐Ange
Publication type:
Article
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 640, doi. 10.1002/ajmg.a.61467
By:
- Wang, Yirou;
- Li, Niu;
- Su, Zhe;
- Xu, Yufei;
- Liu, Shijian;
- Chen, Yao;
- Li, Xin;
- Shen, Yiping;
- Hung, Christina;
- Wang, Jian;
- Wang, Xiumin;
- Bodamer, Olaf
Publication type:
Article
Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466
By:
- Sewani, Maham;
- Nugent, Kimberly;
- Blackburn, Patrick R.;
- Tarnowski, Jessica M.;
- Hernandez‐Garcia, Andres;
- Amiel, Jeanne;
- Whalen, Sandra;
- Keren, Boris;
- Courtin, Thomas;
- Rosenfeld, Jill A.;
- Yang, Yaping;
- Patterson, Marc C.;
- Pichurin, Pavel;
- McLean, Scott D.;
- Scott, Daryl A.
Publication type:
Article
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 798, doi. 10.1002/ajmg.a.61465
By:
- Amlie‐Wolf, Louise;
- Moyer‐Harasink, Sue;
- Carr, Ann‐Marie;
- Giampietro, Philip;
- Schneider, Adele;
- Simon, Mitchell
Publication type:
Article
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 697, doi. 10.1002/ajmg.a.61464
By:
- Machol, Keren;
- Hadley, Trevor D.;
- Schmidt, Jake;
- Cuthbertson, David;
- Traboulsi, Henri;
- Silva, Rodrigo C.;
- Citron, Chloe;
- Khan, Sobiah;
- Citron, Kate;
- Carter, Erin;
- Brookler, Kenneth;
- Shapiro, Jay R.;
- Steiner, Robert D.;
- Byers, Peter H.;
- Glorieux, Francis H.;
- Durigova, Michaela;
- Smith, Peter;
- Bober, Michael B.;
- Sutton, Vernon R.;
- Lee, Brendan H.
Publication type:
Article
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 681, doi. 10.1002/ajmg.a.61460
By:
- Medina, Cristina T. N.;
- Sandoval, Renata;
- Oliveira, Gabriela;
- Costa Silveira, Karina;
- Cavalcanti, Denise P.;
- Pogue, Robert
Publication type:
Article
MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 615, doi. 10.1002/ajmg.a.61229
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 614, doi. 10.1002/ajmg.a.61228
Publication type:
Article
Table of Contents, Volume 182A, Number 4, April 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 609, doi. 10.1002/ajmg.a.61227
Publication type:
Article