Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 6

Results: 40

Cover Image, Volume 182A, Number 6, June 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. i, doi. 10.1002/ajmg.a.61500
Publication type:
Article
Love in the time of COVID‐19.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1299, doi. 10.1002/ajmg.a.61623
By:
- Muenke, Maximilian
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1298, doi. 10.1002/ajmg.a.61613
Publication type:
Article
Genetic Variants May Play Role in Opioid Dependence.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1296, doi. 10.1002/ajmg.a.61612
Publication type:
Article
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1426, doi. 10.1002/ajmg.a.61580
By:
- Rech, Megan E.;
- McCarthy, John M.;
- Chen, Chun‐An;
- Edmond, Jane C.;
- Shah, Veeral S.;
- Bosch, Daniëlle G. M.;
- Berry, Gerard T.;
- Williams, Linford;
- Madan‐Khetarpal, Suneeta;
- Niyazov, Dmitriy;
- Shaw‐Smith, Charles;
- Kovar, Erin M.;
- Lupo, Philip J.;
- Schaaf, Christian P.
Publication type:
Article
Medical genetics education in the midst of the COVID‐19 pandemic: Shared resources.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1302, doi. 10.1002/ajmg.a.61595
By:
- Regier, Debra S.;
- Smith, Wendy E.;
- Byers, Heather M.
Publication type:
Article
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1407, doi. 10.1002/ajmg.a.61585
By:
- Abdel‐Salam, Ghada M. H.;
- Sayed, Inas S. M.;
- Afifi, Hanan H.;
- Abdel‐Ghafar, Sherif F.;
- Abouzaid, Maha R.;
- Ismail, Samira I.;
- Aglan, Mona S.;
- Issa, Mahmoud Y.;
- EL‐Bassyouni, Hala T.;
- El‐Kamah, Ghada;
- Effat, Laila K.;
- Eid, Maha;
- Zaki, Maha S.;
- Temtamy, Samia A.;
- Abdel‐Hamid, Mohamed S.
Publication type:
Article
Multiple synostoses syndrome: Clinical report and retrospective analysis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1438, doi. 10.1002/ajmg.a.61583
By:
- Pan, Zhaoyu;
- Lu, Wei;
- Li, Xiaohong;
- Huang, Shasha;
- Dai, Pu;
- Yuan, Yongyi
Publication type:
Article
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1351, doi. 10.1002/ajmg.a.61582
By:
- Galarreta, Carolina I.;
- Vaida, Florin;
- Bird, Lynne M.
Publication type:
Article
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1421, doi. 10.1002/ajmg.a.61574
By:
- Hall, Bryan D.;
- Stevenson, Roger E.;
- Jones, Julie R.
Publication type:
Article
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1342, doi. 10.1002/ajmg.a.61586
By:
- Baban, Anwar;
- Olivini, Nicole;
- Cantarutti, Nicoletta;
- Calì, Federica;
- Vitello, Carmen;
- Valentini, Diletta;
- Adorisio, Rachele;
- Calcagni, Giulio;
- Alesi, Viola;
- Di Mambro, Corrado;
- Villani, Alberto;
- Dallapiccola, Bruno;
- Digilio, Maria Cristina;
- Marino, Bruno;
- Carotti, Adriano;
- Drago, Fabrizio
Publication type:
Article
Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1506, doi. 10.1002/ajmg.a.61577
By:
- Halperin, Daniel;
- Drabkin, Max;
- Wormser, Ohad;
- Yogev, Yuval;
- Dolgin, Vadim;
- Shorer, Zamir;
- Gradstein, Libe;
- Shelef, Ilan;
- Flusser, Hagit;
- Birk, Ohad S.
Publication type:
Article
KIT‐related piebaldism in a Chinese girl.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1321, doi. 10.1002/ajmg.a.61576
By:
- Zhu, Lei;
- Yang, Chao;
- Zhong, Wei;
- Huang, Yu‐Qi;
- Zhang, Qi;
- Xu, Wen‐Cong;
- Chen, Yong‐Feng
Publication type:
Article
Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1500, doi. 10.1002/ajmg.a.61575
By:
- Hayashi, Takaaki;
- Hosono, Katsuhiro;
- Kubo, Akiko;
- Kurata, Kentaro;
- Katagiri, Satoshi;
- Mizobuchi, Kei;
- Kurai, Minehiro;
- Mamiya, Norihito;
- Kondo, Mineo;
- Tachibana, Toshiaki;
- Saitsu, Hirotomo;
- Ogata, Tsutomu;
- Nakano, Tadashi;
- Hotta, Yoshihiro
Publication type:
Article
Hutchinson‐Gilford Progeria syndrome: Report of the first Togolese case.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1316, doi. 10.1002/ajmg.a.61581
By:
- Guedenon, Koffi M.;
- Doubaj, Yassamine;
- Akolly, Djatougbe A. E.;
- Barry Moussa, Weli;
- Saka, Bayaki;
- Adjenou, Komlavi;
- Belo, Mofou;
- Pio, Machihude;
- Mihluedo‐Agbolan, Komlan A.;
- Vonor, Kokou;
- Amedome, Kokou M.;
- Tchaou, Mazamaesso;
- Atakouma, Yawo D.;
- Gbadoe, Adama D.;
- Dossou, Comlan F.;
- Fiawoo, Mawouto;
- Gnassingbe, Komla;
- Pitche, Palokinam;
- Agbèrè, Diparidè A.;
- Gnamey, Didier K.
Publication type:
Article
A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1329, doi. 10.1002/ajmg.a.61567
By:
- Willis, Brooke R.;
- Lee, Mianne;
- Rethanavelu, Kavitha;
- Fung, Jasmine L. F.;
- Wong, Rosanna M. S.;
- Hui, Peter;
- Yeung, Kit S.;
- Lo, Ivan F. M.;
- Chung, Brian H. Y.
Publication type:
Article
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1491, doi. 10.1002/ajmg.a.61566
By:
- Peretz, Ryan H.;
- Flora, Christina H.;
- Adams, Darius J.
Publication type:
Article
Hip displacement in Wolf–Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1449, doi. 10.1002/ajmg.a.61573
By:
- Buddhdev, Pranai K.;
- Sabir, Ataf;
- Kokkinakis, Michailis;
- Irving, Melita;
- Norman‐Taylor, Fabian
Publication type:
Article
Human RAD50 deficiency: Confirmation of a distinctive phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1378, doi. 10.1002/ajmg.a.61570
By:
- Ragamin, Aviël;
- Yigit, Gökhan;
- Bousset, Kristine;
- Beleggia, Filippo;
- Verheijen, Frans W.;
- Wit, Marie‐Claire Y.;
- Strom, Tim M.;
- Dörk, Thilo;
- Wollnik, Bernd;
- Mancini, Grazia M. S.
Publication type:
Article
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1496, doi. 10.1002/ajmg.a.61569
By:
- Raghuram, Nikhil;
- Marwaha, Ashish;
- Greer, Mary‐Louise C.;
- Gauda, Estelle;
- Chitayat, David
Publication type:
Article
A second case of Okamoto syndrome caused by HNRNPK mutation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1537, doi. 10.1002/ajmg.a.61568
By:
- Maystadt, Isabelle;
- Deprez, Marie;
- Moortgat, Stéphanie;
- Benoît, Valérie;
- Karadurmus, Deniz
Publication type:
Article
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1364, doi. 10.1002/ajmg.a.61572
By:
- Stevens, Kristen E.;
- Price, Julienne E.;
- Marko, Jamie;
- Kaler, Stephen G.
Publication type:
Article
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1387, doi. 10.1002/ajmg.a.61571
By:
- Coban‐Akdemir, Zeynep H.;
- Charng, Wu‐Lin;
- Azamian, Mahshid;
- Paine, Ingrid S.;
- Punetha, Jaya;
- Grochowski, Christopher M.;
- Gambin, Tomasz;
- Valdes, Santiago O.;
- Cannon, Bryan;
- Zapata, Gladys;
- Hernandez, Patricia P.;
- Jhangiani, Shalini;
- Doddapaneni, Harsha;
- Hu, Jianhong;
- Boricha, Fatima;
- Muzny, Donna M.;
- Boerwinkle, Eric;
- Yang, Yaping;
- Gibbs, Richard A.;
- Posey, Jennifer E.
Publication type:
Article
Chimerism in health and potential implications on behavior: A systematic review.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1513, doi. 10.1002/ajmg.a.61565
By:
- Johnson, Brandon N.;
- Ehli, Erik A.;
- Davies, Gareth E.;
- Boomsma, Dorret I.
Publication type:
Article
MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1483, doi. 10.1002/ajmg.a.61560
By:
- Rodríguez‐García, María Elena;
- Cotrina‐Vinagre, Francisco Javier;
- Gómez‐Cano, María de los Ángeles;
- Martínez de Aragón, Ana;
- Martín‐Hernández, Elena;
- Martínez‐Azorín, Francisco
Publication type:
Article
Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1473, doi. 10.1002/ajmg.a.61559
By:
- Cavole, Thiago R.;
- Perrone, Eduardo;
- Lucena de Castro, Felipe S. C.;
- Alvarez Perez, Ana B.;
- Waitzberg, Angela Flávia L.;
- Cernach, Mirlene C. S. P.
Publication type:
Article
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1400, doi. 10.1002/ajmg.a.61558
By:
- Burdick, Kendall J.;
- Cogan, Joy D.;
- Rives, Lynette C.;
- Robertson, Amy K.;
- Koziura, Mary E.;
- Brokamp, Elly;
- Duncan, Laura;
- Hannig, Vickie;
- Pfotenhauer, Jean;
- Vanzo, Rena;
- Paul, Michael S.;
- Bican, Anna;
- Morgan, Thomas;
- Duis, Jessica;
- Newman, John H.;
- Hamid, Rizwan;
- Phillips, John A.
Publication type:
Article
Mowat–Wilson syndrome in a Chinese population: A case series.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1336, doi. 10.1002/ajmg.a.61557
By:
- Ho, Stephanie;
- Luk, Ho‐Ming;
- Chung, Brian Hon‐Yin;
- Fung, Jasmine Lee‐Fong;
- Mak, Harriet Hang‐Yee;
- Lo, Ivan F. M.
Publication type:
Article
A case of Singleton–Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1535, doi. 10.1002/ajmg.a.61556
By:
- Vengoechea, Jaime;
- DiMonda, Janette
Publication type:
Article
PIGW‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1477, doi. 10.1002/ajmg.a.61555
By:
- Peron, Angela;
- Iascone, Maria;
- Salvatici, Elisabetta;
- Cavirani, Benedetta;
- Marchetti, Daniela;
- Corno, Silvia;
- Vignoli, Aglaia
Publication type:
Article
Burn‐McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1313, doi. 10.1002/ajmg.a.61554
By:
- Narayanan, Dhanya L.;
- Purushothama, Greeshma;
- Bhavani, Gandham SL.;
- Shukla, Anju
Publication type:
Article
Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1460, doi. 10.1002/ajmg.a.61553
By:
- Bryant, Emily M.;
- Millichap, John J.;
- Spinelli, Egidio;
- Calhoun, Jeffrey D.;
- Miller, Christopher;
- Giannelli, Jessica;
- Wolak, Jacqueline;
- Sanders, Victoria;
- Carvill, Gemma L.;
- Charrow, Joel
Publication type:
Article
KBG syndrome in two patients from Egypt.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1309, doi. 10.1002/ajmg.a.61552
By:
- Sayed, Inas S. M.;
- Abdel‐Hamid, Mohamed S.;
- Abdel‐Salam, Ghada M.H.
Publication type:
Article
The clinical overlap between cardiac‐urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac‐urogenital syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1532, doi. 10.1002/ajmg.a.61551
By:
- Alves, Daniela;
- Leão, Miguel
Publication type:
Article
NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1454, doi. 10.1002/ajmg.a.61550
By:
- Ritter, Alyssa;
- Werner, Petra;
- Latney, Brande;
- Krock, Bryon L.;
- Santani, Avni;
- Bedoukian, Emma;
- Skraban, Cara M.;
- Deardorff, Matthew A.;
- Goldmuntz, Elizabeth
Publication type:
Article
Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1466, doi. 10.1002/ajmg.a.61549
By:
- Serey‐Gaut, Margaux;
- Scala, Marcello;
- Reversade, Bruno;
- Ruaud, Lyse;
- Cabrol, Christelle;
- Musacchia, Francesco;
- Torella, Annalaura;
- Accogli, Andrea;
- Escande‐Beillard, Nathalie;
- Langlais, Jean;
- Piatelli, Gianluca;
- Consales, Alessandro;
- Nigro, Vincenzo;
- Capra, Valeria;
- Van Maldergem, Lionel
Publication type:
Article
Phenotypic expansion of OTUD6B‐related syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1530, doi. 10.1002/ajmg.a.61548
By:
- Alkuraya, Fowzan S.
Publication type:
Article
Neurodevelopmental Disorder Defined in TET3‐Deficient Individuals.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1295, doi. 10.1002/ajmg.a.61235
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1294, doi. 10.1002/ajmg.a.61234
Publication type:
Article
Table of Contents, Volume 182A, Number 6, June 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1289, doi. 10.1002/ajmg.a.61233
Publication type:
Article