Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 5

Results: 36

CDC42 Mutations Linked to Multiple Heterogeneous Phenotypes: Proper CDC42 function needed for an array of developmental processes, and new data show that different classes of mutations can cause a heterogeneous set of developmental and multisystem phenotypes
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1045, doi. 10.1002/ajmg.a.38716
Publication type:
Article
Whole‐Exome Sequencing and Chromosomal Microarray Analysis Feasible and Cost‐Effective in an Underserved Population: Whole‐exome sequencing and chromosomal microarray analysis are more expensive up front but are far more effective in making a genetic diagnosis and much less costly
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1044, doi. 10.1002/ajmg.a.38715
Publication type:
Article
Cover Image, Volume 176A, Number 5, May 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1, doi. 10.1002/ajmg.a.38714
By:
- Kruszka, Paul;
- Porras, Antonio R.;
- de Souza, Deise Helena;
- Moresco, Angélica;
- Huckstadt, Victoria;
- Gill, Ashleigh D.;
- Boyle, Alec P.;
- Hu, Tommy;
- Addissie, Yonit A.;
- Mok, Gary T. K.;
- Tekendo‐Ngongang, Cedrik;
- Fieggen, Karen;
- Prijoles, Eloise J.;
- Tanpaiboon, Pranoot;
- Honey, Engela;
- Luk, Ho‐Ming;
- Lo, Ivan F. M.;
- Thong, Meow‐Keong;
- Muthukumarasamy, Premala;
- Jones, Kelly L.
Publication type:
Article
A neurodegenerative mitochondrial disease phenotype due to biallelic loss‐of‐function variants in <italic>PNPLA8</italic> encoding calcium‐independent phospholipase A2γ.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1232, doi. 10.1002/ajmg.a.38687
By:
- Shukla, Anju;
- Saneto, Russell P.;
- Hebbar, Malavika;
- Mirzaa, Ghayda;
- Girisha, Katta M.
Publication type:
Article
Bohring‐Opitz syndrome caused by an <italic>ASXL1</italic> mutation inherited from a germline mosaic mother.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1249, doi. 10.1002/ajmg.a.38686
By:
- Bedoukian, Emma;
- Copenheaver, Deborah;
- Bale, Sherri;
- Deardorff, Matthew
Publication type:
Article
Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
By:
- Alby, Caroline;
- Boutaud, Lucile;
- Bessières, Bettina;
- Serre, Valérie;
- Rio, Marlene;
- Cormier‐Daire, Valerie;
- de Oliveira, Judith;
- Ichkou, Amale;
- Mouthon, Linda;
- Gordon, Christopher T.;
- Bonnière, Maryse;
- Mechler, Charlotte;
- Nitschke, Patrick;
- Bole, Christine;
- Lyonnet, Stanislas;
- Bahi‐Buisson, Nadia;
- Boddaert, Nathalie;
- Colleaux, Laurence;
- Roth, Philippe;
- Ville, Yves
Publication type:
Article
Expanding the molecular basis and phenotypic spectrum of <italic>ZDHHC9</italic>‐associated X‐linked intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1238, doi. 10.1002/ajmg.a.38683
By:
- Schirwani, Schaida;
- Wakeling, Emma;
- Smith, Kath;
- DDD Study;
- Balasubramanian, Meena
Publication type:
Article
Philtrum length and intercommissural distance measurements at mixed dentition period.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1145, doi. 10.1002/ajmg.a.38682
By:
- Mostafa, Mostafa;
- Hassib, Nehal;
- Sayed, Inas;
- Neamat, Amany;
- Ramzy, Magda;
- El‐Badry, Tarek;
- ElGabry, Hisham;
- Salem, Haidy;
- Omar, Nada;
- Ismail, Amira;
- Ibrahim, Yousra;
- Shebaita, Amr;
- Allam, Ahmed;
- Mostafa, Magdy
Publication type:
Article
Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1245, doi. 10.1002/ajmg.a.38681
By:
- Kibe, Masaya;
- Ibara, Satoshi;
- Inagaki, Hidehito;
- Kato, Takema;
- Kurahashi, Hiroki;
- Ikeda, Toshiro
Publication type:
Article
Worries and needs of adults and parents of adults with neurofibromatosis type 1.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1150, doi. 10.1002/ajmg.a.38680
By:
- Rietman, Andre B.;
- van Helden, Hanneke;
- Both, Pauline H.;
- Taal, Walter;
- Legerstee, Jeroen S.;
- van Staa, AnneLoes;
- Moll, Henriette A.;
- Oostenbrink, Rianne;
- van Eeghen, Agnies M.
Publication type:
Article
Comparison of perinatal factors in deletion versus uniparental disomy in Prader–Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1161, doi. 10.1002/ajmg.a.38679
By:
- Gold, June‐Anne;
- Mahmoud, Ranim;
- Cassidy, Suzanne B.;
- Kimonis, Virginia
Publication type:
Article
Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution‐based detailed clinical observation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1137, doi. 10.1002/ajmg.a.38678
By:
- Shibuya, Soichi;
- Miyake, Yuichiro;
- Takamizawa, Shigeru;
- Nishi, Eriko;
- Yoshizawa, Katsumi;
- Hatata, Tomoko;
- Yoshizawa, Kazuki;
- Fujita, Kenya;
- Noguchi, Masahiko;
- Ohata, Jun;
- Hiroma, Takehiko;
- Nakamura, Tomohiko;
- Kosho, Tomoki
Publication type:
Article
A novel homozygous mutation in the <italic>SLCO2A1</italic> gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1253, doi. 10.1002/ajmg.a.38677
By:
- Alessandrella, Annalisa;
- Della Casa, Roberto;
- Alessio, Maria;
- Puente Prieto, Jorge;
- Strisciuglio, Pietro;
- Melis, Daniela
Publication type:
Article
Low‐level expression of <italic>EPG5</italic> leads to an attenuated Vici syndrome phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1207, doi. 10.1002/ajmg.a.38676
By:
- Waldrop, Megan A.;
- Gumienny, Felecia;
- Boue, Daniel;
- de los Reyes, Emily;
- Shell, Richard;
- Weiss, Robert B.;
- Flanigan, Kevin M.
Publication type:
Article
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1258, doi. 10.1002/ajmg.a.38675
By:
- Fisher, Michael J.;
- Belzberg, Allan J.;
- de Blank, Peter;
- De Raedt, Thomas;
- Elefteriou, Florent;
- Ferner, Rosalie E.;
- Giovannini, Marco;
- Harris, Gordon J.;
- Kalamarides, Michel;
- Karajannis, Matthias A.;
- Kim, AeRang;
- Lázaro, Conxi;
- Le, Lu Q.;
- Li, Wei;
- Listernick, Robert;
- Martin, Staci;
- Morrison, Helen;
- Pasmant, Eric;
- Ratner, Nancy;
- Schorry, Elisabeth
Publication type:
Article
Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1222, doi. 10.1002/ajmg.a.38674
By:
- Saito, Tomohiro;
- Nakane, Takaya;
- Narusawa, Munenori;
- Yagasaki, Hideaki;
- Nemoto, Atsushi;
- Naito, Atsushi;
- Sugita, Kanji
Publication type:
Article
Williams–Beuren syndrome in diverse populations.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1128, doi. 10.1002/ajmg.a.38672
By:
- Kruszka, Paul;
- Porras, Antonio R.;
- de Souza, Deise Helena;
- Moresco, Angélica;
- Huckstadt, Victoria;
- Gill, Ashleigh D.;
- Boyle, Alec P.;
- Hu, Tommy;
- Addissie, Yonit A.;
- Mok, Gary T. K.;
- Tekendo‐Ngongang, Cedrik;
- Fieggen, Karen;
- Prijoles, Eloise J.;
- Tanpaiboon, Pranoot;
- Honey, Engela;
- Luk, Ho‐Ming;
- Lo, Ivan F. M.;
- Thong, Meow‐Keong;
- Muthukumarasamy, Premala;
- Jones, Kelly L.
Publication type:
Article
Homozygous <italic>DMRT2</italic> variant associates with severe rib malformations in a newborn.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1216, doi. 10.1002/ajmg.a.38668
By:
- Bouman, Arjan;
- Waisfisz, Quinten;
- Admiraal, Jop;
- van de Loo, Moniek;
- van Rijn, Rick R.;
- Dimitra, Micha;
- Oostra, Roelof‐Jan;
- Mathijssen, Inge B.
Publication type:
Article
Two novel cases expanding the phenotype of <italic>SETD2</italic>‐related overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1212, doi. 10.1002/ajmg.a.38666
By:
- van Rij, Maartje C.;
- Hollink, Iris H. I. M.;
- Terhal, Paulien Anna;
- Kant, Sarina G.;
- Ruivenkamp, Claudia;
- van Haeringen, Arie;
- Kievit, J. Anneke;
- van Belzen, Martine J.
Publication type:
Article
Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1055, doi. 10.1002/ajmg.a.38661
By:
- Padula, Amy M.;
- Yang, Wei;
- Schultz, Kathleen;
- Lurmann, Fred;
- Hammond, S. Katharine;
- Shaw, Gary M.
Publication type:
Article
Further delineation of achondroplasia–hypochondroplasia complex with long‐term survival.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1225, doi. 10.1002/ajmg.a.38660
By:
- González‐del Angel, Ariadna;
- Rius, Rocío;
- Alcántara‐Ortigoza, Miguel A.;
- Spector, Elaine;
- del Castillo, Victoria;
- Mata‐García, Luis Enrique
Publication type:
Article
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in <italic>PAX1</italic> gene.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1200, doi. 10.1002/ajmg.a.38659
By:
- Patil, Siddaramappa Jagdish;
- Das Bhowmik, Aneek;
- Bhat, Venkatraman;
- Satidevi Vineeth, Venugopal;
- Vasudevamurthy, Rashmi;
- Dalal, Ashwin
Publication type:
Article
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
By:
- Fitzsimons, Patricia E.;
- Alston, Charlotte L.;
- Bonnen, Penelope E.;
- Hughes, Joanne;
- Crushell, Ellen;
- Geraghty, Michael T.;
- Tetreault, Martine;
- O'Reilly, Peter;
- Twomey, Eilish;
- Sheikh, Yusra;
- Walsh, Richard;
- Waterham, Hans R.;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Taylor, Robert W.;
- Pitt, James J.;
- Mayne, Philip D.
Publication type:
Article
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel <italic>SOX10</italic> mutation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1195, doi. 10.1002/ajmg.a.38657
By:
- Akutsu, Yuko;
- Shirai, Kentaro;
- Takei, Akira;
- Goto, Yudai;
- Aoyama, Tomohiro;
- Watanabe, Akimitu;
- Imamura, Masatoshi;
- Enokizono, Takashi;
- Ohto, Tatsuyuki;
- Hori, Tetsuo;
- Suzuki, Keiko;
- Hayashi, Masaharu;
- Masumoto, Kouji;
- Inoue, Ken
Publication type:
Article
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in <italic>WDR45</italic> in NBIA patient.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1049, doi. 10.1002/ajmg.a.38656
By:
- Willoughby, Josh;
- Duff‐Farrier, Celia;
- Desurkar, Archana;
- Kurian, Manju;
- Raghavan, Ashok;
- DDD Study;
- Balasubramanian, Meena
Publication type:
Article
Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655
By:
- El‐Ruby, Mona;
- El‐Din Fayez, Alaa;
- El‐Dessouky, Sara H.;
- Aglan, Mona S.;
- Mazen, Inas;
- Ismail, Nora;
- Afifi, Hanan H.;
- Eid, Maha M.;
- Mostafa, Mostafa I.;
- Mehrez, Mennat I.;
- Khalil, Yasmin;
- Zaki, Maha S.;
- Gaber, Khaled R.;
- Abdel‐Hamid, Mohamed S.;
- Abdel‐Salam, Ghada M. H.
Publication type:
Article
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1184, doi. 10.1002/ajmg.a.38654
By:
- Stowe, Robert C.;
- Sun, Qin;
- Elsea, Sarah H.;
- Scaglia, Fernando
Publication type:
Article
The Society for Craniofacial Genetics and Developmental Biology 40th annual meeting.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1270, doi. 10.1002/ajmg.a.38653
By:
- Gammill, Laura;
- Cox, Timothy;
- Moody, Sally;
- Taneyhill, Lisa;
- Trainor, Paul;
- Marcucio, Ralph
Publication type:
Article
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1166, doi. 10.1002/ajmg.a.38652
By:
- Ivanovski, Ivan;
- Akbaroghli, Susan;
- Pollazzon, Marzia;
- Gelmini, Chiara;
- Caraffi, Stefano Giuseppe;
- Mansouri, Mahboubeh;
- Chavoshzadeh, Zahra;
- Rosato, Simonetta;
- Polizzi, Valeria;
- Gargano, Giancarlo;
- Alders, Marielle;
- Garavelli, Livia;
- Hennekam, Raoul C.
Publication type:
Article
Non‐syndromic bilateral ulnar aplasia with humero‐radial synostosis and oligo‐ectro‐dactyly.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1180, doi. 10.1002/ajmg.a.38632
By:
- McVeigh, Terri P.;
- Soye, Jonathan A.;
- Gordon, Emma;
- Lynch, Sally A.
Publication type:
Article
Extending the phenotype associated with the <italic>CSNK2A1‐</italic>related Okur–Chung syndrome—A clinical study of 11 individuals.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1108, doi. 10.1002/ajmg.a.38610
By:
- Owen, Ceris I.;
- Bowden, Ramsay;
- Parker, Michael J.;
- Patterson, Jo;
- Patterson, Joan;
- Price, Sue;
- Sarkar, Ajoy;
- Castle, Bruce;
- Deshpande, Charulatha;
- Splitt, Miranda;
- Ghali, Neeti;
- Dean, John;
- Green, Andrew J.;
- Crosby, Charlene;
- Deciphering Developmental Disorders Study;
- Tatton‐Brown, Katrina
Publication type:
Article
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1175, doi. 10.1002/ajmg.a.38493
By:
- Cassini, Thomas A.;
- Robertson, Amy K.;
- Bican, Anna G.;
- Cogan, Joy D.;
- Hannig, Vickie L.;
- Newman, John H.;
- Hamid, Rizwan;
- Phillips, III, John A.;
- the Undiagnosed Diseases Network
Publication type:
Article
A randomized controlled trial of levodopa in patients with Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1099, doi. 10.1002/ajmg.a.38457
By:
- Tan, Wen‐Hann;
- Bird, Lynne M.;
- Sadhwani, Anjali;
- Barbieri‐Welge, Rene L.;
- Skinner, Steven A.;
- Horowitz, Lucia T.;
- Bacino, Carlos A.;
- Noll, Lisa M.;
- Fu, Cary;
- Hundley, Rachel J.;
- Wink, Logan K.;
- Erickson, Craig A.;
- Barnes, Gregory N.;
- Slavotinek, Anne;
- Jeremy, Rita;
- Rotenberg, Alexander;
- Kothare, Sanjeev V.;
- Olson, Heather E.;
- Poduri, Annapurna;
- Nespeca, Mark P.
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1047, doi. 10.1002/ajmg.a.38435
Publication type:
Article
Publication schedule for 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1043, doi. 10.1002/ajmg.a.38434
Publication type:
Article
Table of Contents, Volume 176A, Number 5, May 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1039, doi. 10.1002/ajmg.a.38433
Publication type:
Article