Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 5

Results: 44

In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 952, doi. 10.1002/ajmg.a.61564
Publication type:
Article
Insurers Reluctant to Cover Prenatal Exome Sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 950, doi. 10.1002/ajmg.a.61563
Publication type:
Article
Cover Image, Volume 182A, Number 5, May 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. i, doi. 10.1002/ajmg.a.61500
Publication type:
Article
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1190, doi. 10.1002/ajmg.a.61547
By:
- Perveen, Shama;
- Gupta, Neerja;
- Kumar, Manoj;
- Kaur, Punit;
- Chowdhury, Madhumita R.;
- Kabra, Madhulika
Publication type:
Article
Views of adults with 22q11 deletion syndrome on reproductive choices.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1284, doi. 10.1002/ajmg.a.61546
By:
- McNeill, Alisdair;
- Lewis, Ruth;
- Freeth, Megan
Publication type:
Article
Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1177, doi. 10.1002/ajmg.a.61545
By:
- Myers, Lynnea;
- Anderlid, Britt‐Marie;
- Nordgren, Ann;
- Lundin, Karl;
- Kuja‐Halkola, Ralf;
- Tammimies, Kristiina;
- Bölte, Sven
Publication type:
Article
Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1143, doi. 10.1002/ajmg.a.61539
By:
- Plesser Duvdevani, Morasha;
- Pettersson, Maria;
- Eisfeldt, Jesper;
- Avraham, Ortal;
- Dagan, Judith;
- Frumkin, Ayala;
- Lupski, James R.;
- Lindstrand, Anna;
- Harel, Tamar
Publication type:
Article
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 957, doi. 10.1002/ajmg.a.61543
By:
- Hozhabri, Hossein;
- Talebi, Mehrdad;
- Mehrjardi, Mohammad Y. V.;
- De Luca, Alessandro;
- Dehghani, Mohammadreza
Publication type:
Article
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1278, doi. 10.1002/ajmg.a.61542
By:
- Burke, Elizabeth A.;
- Reichard, Kyle E.;
- Wolfe, Lynne A.;
- Brooks, Brian P.;
- DiGiovanna, John J.;
- Hadley, Donald W.;
- Lehky, Tanya J.;
- Gropman, Andrea L.;
- Tifft, Cynthia J.;
- Gahl, William A.;
- Toro, Camilo;
- Adams, David
Publication type:
Article
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1273, doi. 10.1002/ajmg.a.61541
By:
- Arts, Peer;
- Garland, Jessica;
- Byrne, Alicia B.;
- Hardy, Tristan S.E.;
- Babic, Milena;
- Feng, Jinghua;
- Wang, Paul;
- Ha, Thuong;
- King‐Smith, Sarah L.;
- Schreiber, Andreas W.;
- Crawford, April;
- Manton, Nick;
- Moore, Lynette;
- Barnett, Christopher P.;
- Scott, Hamish S.
Publication type:
Article
New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1152, doi. 10.1002/ajmg.a.61540
By:
- Pollak, Rebecca M.;
- Zinsmeister, Michael C.;
- Murphy, Melissa M.;
- Zwick, Michael E.;
- Mulle, Jennifer G.
Publication type:
Article
GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1167, doi. 10.1002/ajmg.a.61544
By:
- Markovitz, Rebecca;
- Ghosh, Rajarshi;
- Kuo, Molly E.;
- Hong, William;
- Lim, Jaehyung;
- Bernes, Saunder;
- Manberg, Stephanie;
- Crosby, Kathleen;
- Tanpaiboon, Pranoot;
- Bharucha‐Goebel, Diana;
- Bonnemann, Carsten;
- Mohila, Carrie A.;
- Mizerik, Elizabeth;
- Woodbury, Suzanne;
- Bi, Weimin;
- Lotze, Timothy;
- Antonellis, Anthony;
- Xiao, Rui;
- Potocki, Lorraine
Publication type:
Article
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1‐associated anauxetic dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1268, doi. 10.1002/ajmg.a.61538
By:
- Abdulhadi‐Atwan, Maha;
- Klopstock, Tehila;
- Sharaf, Muna;
- Weinberg‐Shukron, Ariella;
- Renbaum, Paul;
- Levy‐Lahad, Ephrat;
- Zangen, David
Publication type:
Article
Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1263, doi. 10.1002/ajmg.a.61537
By:
- Cohen, Ana S. A.;
- Simotas, Christopher;
- Webb, Bryn D.;
- Shi, Huanzhi;
- Khan, Wahab A.;
- Edelmann, Lisa;
- Scott, Stuart A.;
- Singh, Ram
Publication type:
Article
Expansion of the phenotype of lateral meningocele syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1259, doi. 10.1002/ajmg.a.61536
By:
- Cappuccio, Gerarda;
- Apuzzo, Diletta;
- Alagia, Marianna;
- Torella, Annalaura;
- Pinelli, Michele;
- Franco, Brunella;
- Corrado, Bruno;
- Giudice, Ennio;
- D'Amico, Alessandra;
- Nigro, Vincenzo;
- Brunetti‐Pierri, Nicola
Publication type:
Article
An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1255, doi. 10.1002/ajmg.a.61535
By:
- De Luca, Caterina;
- Bevilacqua, Elisa;
- Badr, Dominique A.;
- Cannie, Mieke M.;
- Sanchez, Teresa C.;
- Segers, Valérie;
- Keymolen, Kathelijn;
- Jani, Jacques C.
Publication type:
Article
Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 953, doi. 10.1002/ajmg.a.61534
By:
- Arora, Veronica;
- Puri, Ratna D.;
- Bijarnia‐Mahay, Sunita;
- Verma, Ishwar C.
Publication type:
Article
Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1130, doi. 10.1002/ajmg.a.61533
By:
- Alioto, Andrea G.;
- Gomez, Rowena;
- Moses, James;
- Paternostro, Jennifer;
- Packman, Seymour;
- Packman, Wendy
Publication type:
Article
Brain morphological analysis in PTEN hamartoma tumor syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1117, doi. 10.1002/ajmg.a.61532
By:
- Shiohama, Tadashi;
- Levman, Jacob;
- Vasung, Lana;
- Takahashi, Emi
Publication type:
Article
Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1104, doi. 10.1002/ajmg.a.61531
By:
- Pritchard, Amanda Barone;
- Kanai, Stanley M.;
- Krock, Bryan;
- Schindewolf, Erica;
- Oliver‐Krasinski, Jennifer;
- Khalek, Nahla;
- Okashah, Najeah;
- Lambert, Nevin A.;
- Tavares, Andre L.P.;
- Zackai, Elaine;
- Clouthier, David E.
Publication type:
Article
Congenital limb reduction defects in 1.6 million births in Argentina.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1084, doi. 10.1002/ajmg.a.61528
By:
- Alberto, Guillermo;
- Barbero, Pablo;
- Liascovich, Rosa;
- Bidondo, María Paz;
- Groisman, Boris
Publication type:
Article
Trevor's disease of the distal radioulnar joint in two children with achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1249, doi. 10.1002/ajmg.a.61529
By:
- Kopriva, John M.;
- Miller, Kyle J.;
- Legare, Janet M.;
- Noonan, Kenneth J.
Publication type:
Article
Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1066, doi. 10.1002/ajmg.a.61519
By:
- Manole, Athanasios K.;
- Forrester, Vernon J.;
- Zlotoff, Barrett J.;
- Hart, Blaine L.;
- Morrison, Leslie A.
Publication type:
Article
Expanding the spectrum of CEP55‐associated disease to viable phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1201, doi. 10.1002/ajmg.a.61512
By:
- Barrie, Elizabeth S.;
- Overwater, Eline;
- Haelst, Mieke M.;
- Motazacker, M. Mahdi;
- Truxal, Kristen V.;
- Crist, Erin;
- Mostafavi, Roya;
- Pivnick, Eniko K.;
- Choudhri, Asim F.;
- Narumanchi, TaraChandra;
- Castelluccio, Valerie;
- Walsh, Laurence E.;
- Garganta, Cheryl;
- Gastier‐Foster, Julie M.
Publication type:
Article
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1217, doi. 10.1002/ajmg.a.61504
By:
- MacKay, Conor I.;
- Bick, David;
- Prokop, Jeremy W.;
- Muñoz, Ivan;
- Rouse, John;
- Downs, Jenny;
- Leonard, Helen
Publication type:
Article
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1093, doi. 10.1002/ajmg.a.61530
By:
- El Abiad, Jad M.;
- Robbins, Sarah M.;
- Cohen, Bernard;
- Levin, Adam S.;
- Valle, David L.;
- Morris, Carol D.;
- Macena Sobreira, Nara L.
Publication type:
Article
Cantu syndrome: A longitudinal review of vascular findings in three individuals.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1243, doi. 10.1002/ajmg.a.61521
By:
- Parrott, Ashley;
- Lombardo, Rachel;
- Brown, Nicole;
- Tretter, Justin T.;
- Riley, Laura;
- Weaver, Kathryn Nicole
Publication type:
Article
Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1236, doi. 10.1002/ajmg.a.61520
By:
- Le Van Quyen, Pauline;
- Calmels, Nadège;
- Bonnière, Maryse;
- Chartier, Suzanne;
- Razavi, Féréchté;
- Chelly, Jamel;
- El Chehadeh, Salima;
- Baer, Sarah;
- Boutaud, Lucile;
- Bacrot, Séverine;
- Obringer, Cathy;
- Favre, Romain;
- Attié‐Bitach, Tania;
- Laugel, Vincent;
- Antal, Maria C.
Publication type:
Article
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
By:
- Gnazzo, Maria;
- Lepri, Francesca R;
- Dentici, Maria Lisa;
- Capolino, Rossella;
- Pisaneschi, Elisa;
- Agolini, Emanuele;
- Rinelli, Martina;
- Alesi, Viola;
- Versacci, Paolo;
- Genovese, Silvia;
- Cesario, Claudia;
- Sinibaldi, Lorenzo;
- Baban, Anwar;
- Bartuli, Andrea;
- Marino, Bruno;
- Cappa, Marco;
- Dallapiccola, Bruno;
- Novelli, Antonio;
- Digilio, Maria Cristina
Publication type:
Article
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 994, doi. 10.1002/ajmg.a.61523
By:
- Ayoub, Sandy;
- Ghali, Neeti;
- Angwin, Chloe;
- Baker, Duncan;
- Baffini, Stella;
- Brady, Angela F.;
- Giovannucci Uzielli, Maria Luisa;
- Giunta, Cecilia;
- Johnson, Diana S.;
- Kosho, Tomoki;
- Neas, Katherine;
- Pope, F. Michael;
- Rutsch, Frank;
- Scarselli, Gloria;
- Sobey, Glenda;
- Vandersteen, Anthony;
- Dijk, Fleur S.
Publication type:
Article
Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1008, doi. 10.1002/ajmg.a.61522
By:
- Lugo, Michael;
- Wong, Zoë C.;
- Billington, Charles J.;
- Parrish, Phoebe C. R.;
- Muldoon, Glennis;
- Liu, Delong;
- Pober, Barbara R.;
- Kozel, Beth A.
Publication type:
Article
A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1032, doi. 10.1002/ajmg.a.61516
By:
- Ding, Can;
- Beetz, Rolf;
- Rittner, Gabriele;
- Bartsch, Oliver
Publication type:
Article
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1021, doi. 10.1002/ajmg.a.61515
By:
- Windheuser, Isabelle C.;
- Becker, Jessica;
- Cremer, Kirsten;
- Hundertmark, Hela;
- Yates, Laura M.;
- Mangold, Elisabeth;
- Peters, Sophia;
- Degenhardt, Franziska;
- Ludwig, Kerstin U.;
- Zink, Alexander M.;
- Lessel, Davor;
- Bierhals, Tatjana;
- Herget, Theresia;
- Johannsen, Jessika;
- Denecke, Jonas;
- Wohlleber, Eva;
- Strom, Tim M.;
- Wieczorek, Dagmar;
- Bertoli, Marta;
- Colombo, Roberto
Publication type:
Article
SCN8A heterozygous variants are associated with anoxic‐epileptic seizures.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1209, doi. 10.1002/ajmg.a.61513
By:
- Ranza, Emmanuelle;
- Z'Graggen, Werner;
- Lidgren, Mathias;
- Beghetti, Maurice;
- Guipponi, Michel;
- Antonarakis, Stylianos E.;
- Absoud, Michael;
- Goyal, Sushma;
- Pal, Deb K.;
- Korff, Christian M.
Publication type:
Article
Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1053, doi. 10.1002/ajmg.a.61518
By:
- Baldridge, Dustin;
- Spillmann, Rebecca C.;
- Wegner, Daniel J.;
- Wambach, Jennifer A.;
- White, Frances V.;
- Sisco, Kathleen;
- Toler, Tomi L.;
- Dickson, Patricia I.;
- Cole, F. Sessions;
- Shashi, Vandana;
- Grange, Dorothy K.
Publication type:
Article
Three‐dimensional facial morphology in Cantú syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1041, doi. 10.1002/ajmg.a.61517
By:
- Roessler, Helen I.;
- Shields, Kathleen;
- Grange, Dorothy K.;
- Knoers, Nine V.A.M.;
- Haaften, Gijs;
- Hammond, Peter;
- Haelst, Mieke M.
Publication type:
Article
Homozygous deletion of exons 2–7 within TGFB3 gene in a child with severe Loeys‐Dietz syndrome and Marfan‐like features.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1230, doi. 10.1002/ajmg.a.61508
By:
- Mégarbané, André;
- Deepthi, Asha;
- Obeid, Marc;
- T. Al‐Ali, Mahmoud;
- Gambarini, Alicia;
- El‐Hayek, Stephany
Publication type:
Article
Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety‐related symptoms and intact social awareness.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 974, doi. 10.1002/ajmg.a.61507
By:
- Lasutschinkow, Patricia C.;
- Gropman, Andrea L.;
- Porter, Grace F.;
- Sadeghin, Teresa;
- Samango‐Sprouse, Carole A.
Publication type:
Article
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1223, doi. 10.1002/ajmg.a.61506
By:
- Acosta‐Fernández, Elizabeth;
- Zenteno, Juan C.;
- Chacón‐Camacho, Oscar F.;
- Peña‐Padilla, Christian;
- Bobadilla‐Morales, Lucina;
- Corona‐Rivera, Alfredo;
- Romo‐Huerta, Carmen O.;
- Zepeda‐Romero, Luz C.;
- López‐Marure, Eloy;
- Acosta‐León, Jorge;
- García‐Cruz, Diana;
- Maciel‐Cruz, Eric Jonathan;
- Corona‐Rivera, Jorge Román
Publication type:
Article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
By:
- Chilton, Ilana;
- Okur, Volkan;
- Vitiello, Giuseppina;
- Selicorni, Angelo;
- Mariani, Milena;
- Goldenberg, Alice;
- Husson, Thomas;
- Campion, Dominique;
- Lichtenbelt, Klaske D.;
- Gassen, Koen;
- Steinraths, Michelle;
- Rice, Jennifer;
- Roeder, Elizabeth R.;
- Littlejohn, Rebecca O.;
- Srour, Myriam;
- Sebire, Guillaume;
- Accogli, Andrea;
- Héron, Delphine;
- Heide, Solveig;
- Nava, Caroline
Publication type:
Article
A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 987, doi. 10.1002/ajmg.a.61509
By:
- Marek‐Yagel, Dina;
- Bolkier, Yoav;
- Barel, Ortal;
- Vardi, Amir;
- Mishali, David;
- Katz, Uriel;
- Salem, Yishay;
- Abudi, Shachar;
- Nayshool, Omri;
- Kol, Nitzan;
- Raas‐Rothschild, Annick;
- Rechavi, Gideon;
- Anikster, Yair;
- Pode‐Shakked, Ben
Publication type:
Article
High Polygenic Risk Scores Associated with Autism Spectrum Disorder.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 949, doi. 10.1002/ajmg.a.61232
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 948, doi. 10.1002/ajmg.a.61231
Publication type:
Article
Table of Contents, Volume 182A, Number 5, May 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 943, doi. 10.1002/ajmg.a.61230
Publication type:
Article