Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 1

Results: 43

Cover Image, Volume 182A, Number 1, January 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. i, doi. 10.1002/ajmg.a.61218
Publication type:
Article
Cover Image, Volume 182A, Number 1, January 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. i, doi. 10.1002/ajmg.a.61218
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 10, doi. 10.1002/ajmg.a.61421
Publication type:
Article
New Drug Hailed as Major Breakthrough in Cystic Fibrosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 8, doi. 10.1002/ajmg.a.61420
Publication type:
Article
Molecular subtype and growth hormone effects on dysmorphology in Prader–Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 169, doi. 10.1002/ajmg.a.61408
By:
- Oldzej, Jeannine;
- Manazir, Javeria;
- Gold, June‐Anne;
- Mahmoud, Ranim;
- Osann, Kathryn;
- Flodman, Pamela;
- Cassidy, Suzanne B.;
- Kimonis, Virginia E.
Publication type:
Article
IRF2BPL gene variants: One new case.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 255, doi. 10.1002/ajmg.a.61401
By:
- Spagnoli, Carlotta;
- Rizzi, Susanna;
- Salerno, Grazia G.;
- Frattini, Daniele;
- Fusco, Carlo
Publication type:
Article
Corrigendum.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 269, doi. 10.1002/ajmg.a.61418
Publication type:
Article
X‐chromosome association studies of congenital heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 250, doi. 10.1002/ajmg.a.61411
By:
- Agopian, A. J.;
- Hoang, Thanh T.;
- Goldmuntz, Elizabeth;
- Hakonarson, Hakon;
- Musfee, Fadi I.;
- Mitchell, Laura E.
Publication type:
Article
Professor Laird Jackson, M.D., FFACMG (Physician, Scientist, Educator, and Advocate): 1930–2019.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 11, doi. 10.1002/ajmg.a.61410
By:
- Kline, Tonie;
- Krantz, Ian
Publication type:
Article
Clinical and neurocognitive issues associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome: A case study.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 213, doi. 10.1002/ajmg.a.61409
By:
- Bojanek, Erin K.;
- Mosconi, Matthew W.;
- Guter, Stephen;
- Betancur, Catalina;
- Macmillan, Carol;
- Cook, Edwin H.
Publication type:
Article
Agenesis of the corpus callosum and hepatoblastoma.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 224, doi. 10.1002/ajmg.a.61417
By:
- Luckie, Taylor M.;
- Potter, Samara L.;
- Bacino, Carlos A.;
- Shah, Rachana;
- Heczey, Andras;
- Venkatramani, Rajkumar
Publication type:
Article
Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 219, doi. 10.1002/ajmg.a.61416
By:
- Majer, Filip;
- Kousal, Bohdan;
- Dusek, Petr;
- Piherova, Lenka;
- Reboun, Martin;
- Mihalova, Romana;
- Gurka, Jiri;
- Krebsova, Alice;
- Vlaskova, Hana;
- Dvorakova, Lenka;
- Krihova, Jana;
- Liskova, Petra;
- Kmoch, Stanislav;
- Kalina, Tomas;
- Kubanek, Milos;
- Sikora, Jakub
Publication type:
Article
Wiedemann‐Steiner syndrome in two patients from Portugal.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 25, doi. 10.1002/ajmg.a.61407
By:
- Grangeia, Ana;
- Leão, Miguel;
- Moura, Carla P.
Publication type:
Article
Weight gain velocity in infants with achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 146, doi. 10.1002/ajmg.a.61400
By:
- Buratti, Madeleine E.;
- Eickhoff, Jens;
- Modaff, Peggy;
- Pauli, Richard M.;
- Legare, Janet M.
Publication type:
Article
A novel heterozygous loss‐of‐function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 205, doi. 10.1002/ajmg.a.61404
By:
- Sagi‐Dain, Lena;
- Kurolap, Alina;
- Ilivitzki, Anat;
- Mory, Adi;
- Paperna, Tamar;
- Kedar, Reuven;
- Gonzaga‐Jauregui, Claudia;
- Peleg, Amir;
- Baris Feldman, Hagit
Publication type:
Article
Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 162, doi. 10.1002/ajmg.a.61403
By:
- Davis, Shanlee;
- Ware, Meredith A.;
- Zeiger, Jordan;
- Deardorff, Matthew A.;
- Grand, Katheryn;
- Grimberg, Adda;
- Hsu, Stephanie;
- Kelsey, Megan;
- Majidi, Shideh;
- Matthew, Revi P.;
- Napier, Melanie;
- Nokoff, Natalie;
- Prasad, Chitra;
- Riggs, Andrew C.;
- McKinnon, Margaret L.;
- Mirzaa, Ghayda
Publication type:
Article
Blood pressure in adults with short stature skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 150, doi. 10.1002/ajmg.a.61402
By:
- Hoover‐Fong, Julie;
- Alade, Adekemi Yewande;
- Ain, Michael;
- Berkowitz, Ivor;
- Bober, Michael;
- Carter, Erin;
- Hecht, Jacqueline;
- Hoerschemeyer, Dan;
- Krakow, Debra;
- MacCarrick, Gretchen;
- Mackenzie, William G.;
- Mendoza, Roberto;
- Okenfuss, Ericka;
- Popplewell, Deirdre;
- Raggio, Cathleen;
- Schulze, Kerry;
- McGready, John
Publication type:
Article
International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 257, doi. 10.1002/ajmg.a.61406
By:
- Nevado, Julián;
- Ho, Karen S.;
- Zollino, Marcella;
- Blanco, Raquel;
- Cobaleda, César;
- Golzio, Christelle;
- Beaudry‐Bellefeuille, Isabelle;
- Berrocoso, Sarah;
- Limeres, Jacobo;
- Barrúz, Pilar;
- Serrano‐Martín, Candela;
- Cafiero, Concetta;
- Málaga, Ignacio;
- Marangi, Giuseppe;
- Campos‐Sánchez, Elena;
- Moriyón‐Iglesias, Tania;
- Márquez, Sorangui;
- Markham, Leah;
- Twede, Hope;
- Lortz, Amanda
Publication type:
Article
Okur‐Chung neurodevelopmental syndrome in a patient from Spain.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 20, doi. 10.1002/ajmg.a.61405
By:
- Martinez‐Monseny, Antonio F.;
- Casas‐Alba, Dídac;
- Arjona, César;
- Bolasell, Mercè;
- Casano, Paula;
- Muchart, Jordi;
- Ramos, Federico;
- Martorell, Loreto;
- Palau, Francesc;
- García‐Alix, Alfredo;
- Serrano, Mercedes
Publication type:
Article
Healthcare recommendations for Joubert syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 229, doi. 10.1002/ajmg.a.61399
By:
- Bachmann‐Gagescu, Ruxandra;
- Dempsey, Jennifer C.;
- Bulgheroni, Sara;
- Chen, Maida L.;
- D'Arrigo, Stefano;
- Glass, Ian A.;
- Heller, Theo;
- Héon, Elise;
- Hildebrandt, Friedhelm;
- Joshi, Nirmal;
- Knutzen, Dana;
- Kroes, Hester Y.;
- Mack, Stephen H.;
- Nuovo, Sara;
- Parisi, Melissa A.;
- Snow, Joseph;
- Summers, Angela C.;
- Symons, Jordan M.;
- Zein, Wadih M.;
- Boltshauser, Eugen
Publication type:
Article
CHARGE syndrome in nine patients from China.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 15, doi. 10.1002/ajmg.a.61398
By:
- Cheng, Shirley S. W.;
- Luk, Ho‐Ming;
- Chan, David K. H.;
- Lo, Ivan F. M.
Publication type:
Article
Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 201, doi. 10.1002/ajmg.a.61397
By:
- Leon, Eyby;
- Diaz, Jullianne;
- Castilla‐Vallmanya, Laura;
- Grinberg, Daniel;
- Balcells, Susanna;
- Urreizti, Roser
Publication type:
Article
Adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome: A cross‐sectional study of health burden perspectives.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 137, doi. 10.1002/ajmg.a.61396
By:
- Johansen, Heidi;
- Velvin, Gry;
- Lidal, Ingeborg
Publication type:
Article
NRAS associated RASopathy and embryonal rhabdomyosarcoma.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 195, doi. 10.1002/ajmg.a.61395
By:
- Garren, Benjamin;
- Stephan, Mark;
- Hogue, Jacob S.
Publication type:
Article
Medically actionable comorbidities in adults with Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 130, doi. 10.1002/ajmg.a.61394
By:
- Shikany, Amy R.;
- Baker, Laura;
- Stabley, Deborah L.;
- Robbins, Katherine;
- Doyle, Daniel;
- Gripp, Karen W.;
- Weaver, K. Nicole
Publication type:
Article
Sleep‐disordered breathing in children with pycnodysostosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 122, doi. 10.1002/ajmg.a.61393
By:
- Khirani, Sonia;
- Amaddeo, Alessandro;
- Baujat, Geneviève;
- Michot, Caroline;
- Couloigner, Vincent;
- Pinto, Graziella;
- Arnaud, Eric;
- Picard, Arnaud;
- Cormier‐Daire, Valérie;
- Fauroux, Brigitte
Publication type:
Article
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 189, doi. 10.1002/ajmg.a.61392
By:
- Boone, Philip M.;
- Paterson, Scott;
- Mohajeri, Kiana;
- Zhu, Wenmiao;
- Genetti, Casie A.;
- Tai, Derek J. C.;
- Nori, Neeharika;
- Agrawal, Pankaj B.;
- Bacino, Carlos A.;
- Bi, Weimin;
- Talkowski, Michael E.;
- Hogan, Benjamin M.;
- Rodan, Lance H.
Publication type:
Article
Myokine levels after resistance exercise in young adults with Prader–Willi syndrome (PWS).
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 115, doi. 10.1002/ajmg.a.61391
By:
- Hirsch, Harry J.;
- Gross‐Tsur, Varda;
- Sabag, Yanir;
- Nice, Shachar;
- Genstil, Larry;
- Benarroch, Fortu;
- Constantini, Naama
Publication type:
Article
Alzheimer's disease development in adults with Down syndrome: Caregivers' perspectives.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 104, doi. 10.1002/ajmg.a.61390
By:
- Ilacqua, Alexandra;
- Benedict, Jason;
- Shoben, Abigail;
- Skotko, Brian G.;
- Matthews, Theodora;
- Benson, Betsey;
- Allain, Dawn C.
Publication type:
Article
Brain white matter abnormalities associated with copy number variants.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 93, doi. 10.1002/ajmg.a.61389
By:
- Vigdorovich, Nitzan;
- Ben‐Sira, Liat;
- Blumkin, Lubov;
- Precel, Ronit;
- Nezer, Ifat;
- Yosovich, Keren;
- Cross, Zachary;
- Vanderver, Adeline;
- Lev, Dorit;
- Lerman‐Sagie, Tally;
- Zerem, Ayelet
Publication type:
Article
Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 183, doi. 10.1002/ajmg.a.61388
By:
- Somashekar, Puneeth H.;
- Narayanan, Dhanya L.;
- Jagadeesh, Sujatha;
- Suresh, Beena;
- Vaishnavi, Reddy D.;
- Bielas, Stephanie;
- Girisha, Katta M.;
- Shukla, Anju
Publication type:
Article
Prenatal and perinatal history in Kabuki Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 85, doi. 10.1002/ajmg.a.61387
By:
- Rosenberg, Chen E.;
- Daly, Tara;
- Hung, Christina;
- Hsueh, Irene;
- Lindsley, Andrew W.;
- Bodamer, Olaf
Publication type:
Article
Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 268, doi. 10.1002/ajmg.a.61386
By:
- Cappuccio, G.;
- Pinelli, M.;
- Torella, A.;
- Alagia, M.;
- Auricchio, R.;
- Staiano, A.;
- Nigro, V.;
- Brunetti‐Pierri, N.
Publication type:
Article
Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 71, doi. 10.1002/ajmg.a.61385
By:
- DiStefano, Charlotte;
- Wilson, Rujuta B.;
- Hyde, Carly;
- Cook, Edwin H.;
- Thibert, Ronald L.;
- Reiter, Lawrence T.;
- Vogel‐Farley, Vanessa;
- Hipp, Joerg;
- Jeste, Shafali
Publication type:
Article
Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 64, doi. 10.1002/ajmg.a.61383
By:
- Baban, Anwar;
- Adorisio, Rachele;
- Corica, Bernadette;
- Rizzo, Cristiano;
- Calì, Federica;
- Semeraro, Michela;
- Taurisano, Roberta;
- Magliozzi, Monia;
- Carrozzo, Rosalba;
- Parisi, Francesco;
- Dallapiccola, Bruno;
- Vaz, Frédéric M.;
- Drago, Fabrizio;
- Dionisi‐Vici, Carlo
Publication type:
Article
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 53, doi. 10.1002/ajmg.a.61382
By:
- Bindels‐de Heus, Karen G. C. B.;
- Mous, Sabine E.;
- Hooven‐Radstaake, Maartje;
- Iperen‐Kolk, Bianca M.;
- Navis, Cindy;
- Rietman, André B.;
- Hoopen, Leontine W.;
- Brooks, Alice S.;
- Elgersma, Ype;
- Moll, Henriëtte A.;
- Wit, Marie‐Claire Y.
Publication type:
Article
Intrafamilial "DOA‐plus" phenotype variability related to different OMI/HTRA2 expression.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 176, doi. 10.1002/ajmg.a.61381
By:
- Napolitano, Filomena;
- Terracciano, Chiara;
- Bruno, Giorgia;
- Nesti, Claudia;
- Barillari, Maria R.;
- Barillari, Umberto;
- Santorelli, Filippo M.;
- Melone, Mariarosa A.B.;
- Esposito, Teresa;
- Sampaolo, Simone
Publication type:
Article
Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 38, doi. 10.1002/ajmg.a.61380
By:
- Assia Batzir, Nurit;
- Posey, Jennifer E.;
- Song, Xiaofei;
- Akdemir, Zeynep Coban;
- Rosenfeld, Jill A.;
- Brown, Chester W.;
- Chen, Emily;
- Holtrop, Shannon G.;
- Mizerik, Elizabeth;
- Nieto Moreno, Margarita;
- Payne, Katelyn;
- Raas‐Rothschild, Annick;
- Scott, Richard;
- Vernon, Hilary J.;
- Zadeh, Neda;
- Lupski, James R.;
- Sutton, V. Reid
Publication type:
Article
Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 13, doi. 10.1002/ajmg.a.61370
By:
- Carey, John C.
Publication type:
Article
Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 29, doi. 10.1002/ajmg.a.61364
By:
- Dudoignon, Benjamin;
- Huber, Celine;
- Michot, Caroline;
- Di Rocco, Federico;
- Girard, Muriel;
- Lyonnet, Stanislas;
- Rio, Marlène;
- Rabia, Smail Hadj;
- Daire, Valérie Cormier;
- Baujat, Geneviève
Publication type:
Article
Biomarker May Predict Cancer Versus Autism Risk in Pten Hamartoma Tumor Syndrome: Decreased levels of fumarate were more strongly associated with autism than cancer in persons with PTEN mutations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 7, doi. 10.1002/ajmg.a.61220
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 6, doi. 10.1002/ajmg.a.61219
Publication type:
Article
Table of Contents, Volume 182A, Number 1, January 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 1, doi. 10.1002/ajmg.a.61218
Publication type:
Article