Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 6

Results: 40

Top Scientists Argue for Moratorium on Human Germline Editing.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 882, doi. 10.1002/ajmg.a.61158
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 884, doi. 10.1002/ajmg.a.61157
Publication type:
Article
Cover Image, Volume 179A, Number 6, June 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. i, doi. 10.1002/ajmg.a.61156
By:
- Yamada, Mamiko;
- Uehara, Tomoko;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Yoshihashi, Hiroshi;
- Suzumura, Hiroshi;
- Mizuno, Seiji;
- Kosaki, Kenjiro
Publication type:
Article
Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 903, doi. 10.1002/ajmg.a.61149
By:
- Mullin, Jonathan;
- Wolfe, Joanne;
- Bluebond‐Langner, Myra;
- Craig, Finella
Publication type:
Article
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 978, doi. 10.1002/ajmg.a.61137
By:
- Carvalho, Nara O.;
- Castillo, Dora M.;
- Januário, José N.;
- Starling, Ana L. P.;
- Arantes, Rodrigo R.;
- Norton, Rocksane C.;
- Viana, Marcos B.
Publication type:
Article
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1034, doi. 10.1002/ajmg.a.61143
By:
- Zapata‐Aldana, Eugenio;
- Al‐Mobarak, Sulaiman B.;
- Karp, Natalya;
- Campbell, Craig
Publication type:
Article
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 948, doi. 10.1002/ajmg.a.61142
By:
- Yamaguchi, Tomomi;
- Takano, Kyoko;
- Inaba, Yuji;
- Morikawa, Manami;
- Motobayashi, Mitsuo;
- Kawamura, Rie;
- Wakui, Keiko;
- Nishi, Eriko;
- Hirabayashi, Shin‐ichi;
- Fukushima, Yoshimitsu;
- Kato, Hiroyuki;
- Takahashi, Jun;
- Kosho, Tomoki
Publication type:
Article
Maladaptive behaviors in individuals with Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 983, doi. 10.1002/ajmg.a.61140
By:
- Sadhwani, Anjali;
- Willen, Jennifer M.;
- LaVallee, Nicole;
- Stepanians, Miganush;
- Miller, Hillary;
- Peters, Sarika U.;
- Barbieri‐Welge, Rene L.;
- Horowitz, Lucia T.;
- Noll, Lisa M.;
- Hundley, Rachel J.;
- Bird, Lynne M.;
- Tan, Wen‐Hann
Publication type:
Article
Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 893, doi. 10.1002/ajmg.a.61139
By:
- Alarcón, Pablo I.;
- Mujica, Ignacia;
- Sanz, Patricia;
- García, Cristian J.;
- Gilgenkrantz, Simone
Publication type:
Article
Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1047, doi. 10.1002/ajmg.a.61145
By:
- Zarate, Yuri A.;
- Boccuto, Luigi;
- Srikanth, Sujata;
- Pauly, Rini;
- Ocal, Eylem;
- Balmakund, Tonya;
- Hinkle, Kevin;
- Stefans, Vikki;
- Schaefer, Gerald B.;
- Collins, Ronnie Thomas
Publication type:
Article
Orofacial clefts in California: No decline in Alberta, Canada.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1077, doi. 10.1002/ajmg.a.61136
By:
- Lowry, R. Brian;
- Crawford, Susan;
- Bedard, Tanya;
- Sibbald, Barbara
Publication type:
Article
Inferring parental gonadal mosaicism in LMNA‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1074, doi. 10.1002/ajmg.a.61135
By:
- Perez Maturo, Josefina;
- Vega, Patricia;
- Medina, Nancy;
- Salinas, Valeria;
- Pauni, Micaela;
- Agosta, Guillermo;
- Muntadas Rausei, Javier;
- Kauffman, Marcelo
Publication type:
Article
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 966, doi. 10.1002/ajmg.a.61134
By:
- Kumar, Akash;
- Zastrow, Diane B.;
- Kravets, Elijah J.;
- Beleford, Daniah;
- Ruzhnikov, Maura R. Z.;
- Grove, Megan E.;
- Dries, Annika M.;
- Kohler, Jennefer N.;
- Waggott, Daryl M.;
- Yang, Yaping;
- Huang, Yong;
- Mackenzie, Katherine M.;
- Eng, Christine M.;
- Fisher, Paul G.;
- Ashley, Euan A.;
- Teng, Joyce M.;
- Stevenson, David A.;
- Shieh, Joseph T.;
- Wheeler, Matthew T.;
- Bernstein, Jonathan A.
Publication type:
Article
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1053, doi. 10.1002/ajmg.a.61133
By:
- Abdel‐Salam, Ghada M. H.;
- Mazen, Inas;
- Eid, Maha;
- Ewida, Nour;
- Shaheen, Ranad;
- Alkuraya, Fowzan S.
Publication type:
Article
Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 958, doi. 10.1002/ajmg.a.61132
By:
- Silverman, Edwin K.;
- Allard, Patrick;
- Loscalzo, Joseph;
- Mulvihill, John J.;
- Korrick, Susan A.
Publication type:
Article
Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1058, doi. 10.1002/ajmg.a.61131
By:
- Banka, Siddharth;
- Sayer, Rebecca;
- Breen, Catherine;
- Barton, Stephanie;
- Pavaine, Julija;
- Sheppard, Sarah E.;
- Bedoukian, Emma;
- Skraban, Cara;
- Cuddapah, Vishnu A;
- Clayton‐Smith, Jill
Publication type:
Article
A Japanese patient with RAD51‐associated Fanconi anemia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 900, doi. 10.1002/ajmg.a.61130
By:
- Takenaka, Satoshi;
- Kuroda, Yukiko;
- Ohta, Sayaka;
- Mizuno, Yoko;
- Hiwatari, Mitsuteru;
- Miyatake, Satoko;
- Matsumoto, Naomichi;
- Oka, Akira
Publication type:
Article
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1030, doi. 10.1002/ajmg.a.61127
By:
- Bonnemason‐Carrere, Paul;
- Morice‐Picard, Fanny;
- Pennamen, Perrine;
- Arveiler, Benoit;
- Fergelot, Patricia;
- Goizet, Cyril;
- Hellegouarch, Mélanie;
- Lacombe, Didier;
- Plaisant, Claudio;
- Raclet, Virginie;
- Rooryck, Caroline;
- Lasseaux, Eulalie;
- Trimouille, Aurélien
Publication type:
Article
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 927, doi. 10.1002/ajmg.a.61126
By:
- Al‐Dewik, Nader;
- Mohd, Howaida;
- Al‐Mureikhi, Mariam;
- Ali, Rehab;
- Al‐Mesaifri, Fatma;
- Mahmoud, Laila;
- Shahbeck, Noora;
- El‐Akouri, Karen;
- Almulla, Mariam;
- Al Sulaiman, Reem;
- Musa, Sara;
- Al‐Marri, Ajayeb Al‐Nabet;
- Richard, Gabriele;
- Juusola, Jane;
- Solomon, Benjamin D.;
- Alkuraya, Fowzan S.;
- Ben‐Omran, Tawfeg
Publication type:
Article
Height growth velocity during infancy and childhood in achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1001, doi. 10.1002/ajmg.a.61120
By:
- del Pino, Mariana;
- Fano, Virginia;
- Adamo, Paula
Publication type:
Article
The burden of rare diseases.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 885, doi. 10.1002/ajmg.a.61124
By:
- Ferreira, Carlos R.
Publication type:
Article
Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1042, doi. 10.1002/ajmg.a.61123
By:
- Ritter, Alyssa;
- Cuddapah, Sanmati;
- Degenhardt, Karl;
- Kasperski, Stefanie;
- Johnson, Mark P.;
- O'Connor, Matthew J.;
- Ahrens‐Nicklas, Rebecca
Publication type:
Article
CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 915, doi. 10.1002/ajmg.a.61122
By:
- Carrera‐García, Laura;
- Natera‐de Benito, Daniel;
- Dieterich, Klaus;
- Banda, Marta G. G.;
- Felter, Adrien;
- Inarejos, Emili;
- Codina, Anna;
- Jou, Cristina;
- Roldan, Monica;
- Palau, Francesc;
- Hoenicka, Janet;
- Pijuan, Jordi;
- Ortez, Carlos;
- Expósito‐Escudero, Jessica;
- Durand, Chantal;
- Nugues, Frédérique;
- Jimenez‐Mallebrera, Cecilia;
- Colomer, Jaume;
- Carlier, Robert Y.;
- Lochmüller, Hanns
Publication type:
Article
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1063, doi. 10.1002/ajmg.a.61121
By:
- Drivas, Theodore G.;
- Taylor, Jesse A.;
- Zackai, Elaine H.
Publication type:
Article
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1091, doi. 10.1002/ajmg.a.61125
By:
- Rauen, Katherine A.;
- Alsaegh, Abeer;
- Ben‐Shachar, Shay;
- Berman, Yemima;
- Blakeley, Jaishri;
- Cordeiro, Isabel;
- Elgersma, Ype;
- Evans, D. Gareth;
- Fisher, Michael J.;
- Frayling, Ian M.;
- George, Joshi;
- Huson, Susan M.;
- Kerr, Bronwyn;
- Khire, Uday;
- Korf, Bruce;
- Legius, Eric;
- Messiaen, Ludwine;
- van Minkelen, Rick;
- Nampoothiri, Sheela;
- Ngeow, Joanne
Publication type:
Article
Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 908, doi. 10.1002/ajmg.a.61119
By:
- Nampoothiri, Sheela;
- Guillemyn, Brecht;
- Elcioglu, Nursel;
- Jagadeesh, Sujatha;
- Yesodharan, Dhanya;
- Suresh, Beena;
- Turan, Serap;
- Symoens, Sofie;
- Malfait, Fransiska
Publication type:
Article
Acute leukemia in a patient with 15q overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1025, doi. 10.1002/ajmg.a.61115
By:
- Bodle, Ethan E.;
- Gupta, Ridhi;
- Cherry, Athena M.;
- Muffly, Lori;
- Manning, Melanie A.
Publication type:
Article
SATB2‐associated syndrome in patients from Japan: Linguistic profiles.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 896, doi. 10.1002/ajmg.a.61114
By:
- Yamada, Mamiko;
- Uehara, Tomoko;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Yoshihashi, Hiroshi;
- Suzumura, Hiroshi;
- Mizuno, Seiji;
- Kosaki, Kenjiro
Publication type:
Article
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 993, doi. 10.1002/ajmg.a.61113
By:
- Conrad, Solène;
- Demurger, Florence;
- Moradkhani, Kamran;
- Pichon, Olivier;
- Le Caignec, Cédric;
- Pascal, Cécile;
- Thomas, Caroline;
- Bayart, Sophie;
- Perlat, Antoinette;
- Dubourg, Christèle;
- Jaillard, Sylvie;
- Nizon, Mathilde
Publication type:
Article
From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1098, doi. 10.1002/ajmg.a.61112
By:
- Ferner, Rosalie E.;
- Bakker, Annette;
- Elgersma, Ype;
- Evans, D. Gareth R.;
- Giovannini, Marco;
- Legius, Eric;
- Lloyd, Alison;
- Messiaen, Ludwine M.;
- Plotkin, Scott;
- Reilly, Karlyne M.;
- Schindeler, Aaron;
- Smith, Miriam J.;
- Ullrich, Nicole J.;
- Widemann, Brigitte;
- Sherman, Larry S.
Publication type:
Article
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 940, doi. 10.1002/ajmg.a.61111
By:
- Leoni, Chiara;
- Triumbari, Elizabeth Katherine Anna;
- Vollono, Catello;
- Onesimo, Roberta;
- Podagrosi, Maria;
- Giorgio, Valentina;
- Kuczynska, Eliza;
- Veltri, Stefania;
- Tartaglia, Marco;
- Zampino, Giuseppe
Publication type:
Article
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1020, doi. 10.1002/ajmg.a.61110
By:
- Pacheva, Iliyana;
- Todorov, Tihomir;
- Halil, Zeyra;
- Yordanova, Ralitsa;
- Todorova, Albena;
- Geneva, Ina;
- Galabova, Fani;
- Ivanov, Ivan
Publication type:
Article
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1080, doi. 10.1002/ajmg.a.61108
By:
- Kline, Antonie D.;
- Krantz, Ian D.;
- Bando, Masashige;
- Shirahige, Katsuhiko;
- Chea, Stephenson;
- Sakata, Toyonori;
- Rao, Suhas;
- Dorsett, Dale;
- Singh, Vijay Pratap;
- Gerton, Jennifer L.;
- Horsfield, Julia A.;
- Calof, Anne L.;
- Katz, Olivia;
- Grados, Marco;
- Raible, Sarah;
- Barañano, Kristin;
- Lyon, Gholson;
- Musio, Antonio;
- Carrico, Cheri S.;
- Clemens, Douglas K.
Publication type:
Article
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1069, doi. 10.1002/ajmg.a.61105
By:
- Hughes, Derralynn A.;
- Nicholls, Kathleen;
- Sunder‐Plassmann, Gere;
- Jovanovic, Ana;
- Feldt‐Rasmussen, Ulla;
- Schiffmann, Raphael;
- Giugliani, Robert;
- Jain, Vipul;
- Viereck, Chris;
- Castelli, Jeffrey P.;
- Skuban, Nina;
- Barth, Jay A.;
- Bichet, Daniel G.
Publication type:
Article
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1015, doi. 10.1002/ajmg.a.61104
By:
- Tam, Allison;
- AlDhaheri, Noura Salem;
- Mysore, Krupa;
- Tessier, Mary Elizabeth;
- Goss, John;
- Fernandez, Luis A.;
- D'Alessandro, Anthony M.;
- Schwoerer, Jessica Scott;
- Rice, Gregory M.;
- Elsea, Sarah H.;
- Scaglia, Fernando
Publication type:
Article
A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 936, doi. 10.1002/ajmg.a.61088
By:
- Zhang, Ling;
- Xu, Ximing;
- Sun, Kaiqiang;
- Sun, Jingchuan;
- Wang, Yuan;
- Liu, Yang;
- Yang, Nan;
- Tao, Chengqiu;
- Cai, Baozhu;
- Shi, Guodong;
- Zhang, Feng;
- Shi, Jiangang
Publication type:
Article
A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1010, doi. 10.1002/ajmg.a.61018
By:
- Aljeaid, Deema;
- Lombardo, Rachel C.;
- Witte, David P.;
- Hopkin, Robert J.
Publication type:
Article
Therapeutic Target Identified for Slowing Early Atherosclerosis in Progeria: Researchers have identifi ed a new molecular mechanism involved in the premature development of atherosclerosis in progeria.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 881, doi. 10.1002/ajmg.a.40450
Publication type:
Article
Publication schedule for 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 880, doi. 10.1002/ajmg.a.40449
Publication type:
Article
Table of Contents, Volume 179A, Number 6, June 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 875, doi. 10.1002/ajmg.a.40448
Publication type:
Article