Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 9

Results: 31

Increasing evidence of hereditary lymphedema caused by CELSR1 loss‐of‐function variants.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1718, doi. 10.1002/ajmg.a.61269
By:
- Maltese, Paolo E.;
- Michelini, Sandro;
- Ricci, Maurizio;
- Maitz, Silvia;
- Fiorentino, Alessandro;
- Serrani, Roberta;
- Lazzerotti, Alessandra;
- Bruson, Alice;
- Paolacci, Stefano;
- Benedetti, Sabrina;
- Bertelli, Matteo
Publication type:
Article
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1709, doi. 10.1002/ajmg.a.61267
By:
- Narayanan, Dhanya L.;
- Shukla, Anju;
- Kausthubham, Neethukrishna;
- Bhavani, Gandham S.;
- Shah, Hitesh;
- Mortier, Geert;
- Girisha, Katta M.
Publication type:
Article
Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1872, doi. 10.1002/ajmg.a.61271
By:
- Goldsmith, Heidi;
- Wells, Anna;
- Sá, Maria J. N.;
- Williams, Mark;
- Heussler, Helen;
- Buckman, Melissa;
- Pfundt, Rolph;
- Vries, Bert B. A.;
- Goel, Himanshu
Publication type:
Article
Optic disc swelling in acromicric and geleophysic dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1898, doi. 10.1002/ajmg.a.61268
By:
- Moey, Lip Hen;
- Flaherty, Maree;
- Zankl, Andreas
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1687, doi. 10.1002/ajmg.a.61320
Publication type:
Article
Gene Editing may have Increased Mortality for Chinese Twins.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1685, doi. 10.1002/ajmg.a.61319
Publication type:
Article
Cover Image, Volume 179A, Number 9, September 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. i, doi. 10.1002/ajmg.a.61318
By:
- Gazzin, Andrea;
- Carli, Diana;
- Sirchia, Fabio;
- Molinatto, Cristina;
- Cardaropoli, Simona;
- Palumbo, Giuseppe;
- Zampino, Giuseppe;
- Ferrero, Giovanni Battista;
- Mussa, Alessandro
Publication type:
Article
Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1691, doi. 10.1002/ajmg.a.61301
By:
- Gazzin, Andrea;
- Carli, Diana;
- Sirchia, Fabio;
- Molinatto, Cristina;
- Cardaropoli, Simona;
- Palumbo, Giuseppe;
- Zampino, Giuseppe;
- Ferrero, Giovanni Battista;
- Mussa, Alessandro
Publication type:
Article
Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1857, doi. 10.1002/ajmg.a.61300
By:
- Corona‐Rivera, Jorge Román;
- Nieto‐García, Rafael;
- Gutiérrez‐Chávez, Andrea S.;
- Bobadilla‐Morales, Lucina;
- Rios‐Flores, Izabel M.;
- Corona‐Rivera, Alfredo;
- Fabián‐Morales, Gerardo E.;
- Zavala‐Cortés, Ignacio;
- Lugo‐Iglesias, Cynthia;
- Peña‐Padilla, Christian
Publication type:
Article
Equipoise of recent estimated Down syndrome live births in Japan.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1815, doi. 10.1002/ajmg.a.61298
By:
- Sasaki, Aiko;
- Sago, Haruhiko
Publication type:
Article
Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1846, doi. 10.1002/ajmg.a.61296
By:
- Forestieri, Nina E.;
- Desrosiers, Tania A.;
- Freedman, Sharon F.;
- Aylsworth, Arthur S.;
- Voltzke, Kristin;
- Olshan, Andrew F.;
- Meyer, Robert E.
Publication type:
Article
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1836, doi. 10.1002/ajmg.a.61294
By:
- Škorić‐Milosavljević, Doris;
- Tjong, Fleur V. Y.;
- Barc, Julien;
- Backx, Ad P. C. M.;
- Clur, Sally‐Ann B.;
- Spaendonck‐Zwarts, Karin;
- Oostra, Roelof‐Jan;
- Lahrouchi, Najim;
- Beekman, Leander;
- Bökenkamp, Regina;
- Barge‐Schaapveld, Daniela Q. C. M.;
- Mulder, Barbara J.;
- Lodder, Elisabeth M.;
- Bezzina, Connie R.;
- Postma, Alex V.
Publication type:
Article
Mutations in Gene Coding for SLIT2 Linked to Preterm Birth: SLIT2 and its receptor ROBO1 are components of the signaling network that promotes spontaneous preterm birth.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1684, doi. 10.1002/ajmg.a.40459
Publication type:
Article
Impact of genetic subtypes of Prader–Willi syndrome with growth hormone therapy on intelligence and body mass index.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1826, doi. 10.1002/ajmg.a.61293
By:
- Butler, Merlin G.;
- Matthews, Naomi A.;
- Patel, Nidhi;
- Surampalli, Abhilasha;
- Gold, June‐Anne;
- Khare, Manaswitha;
- Thompson, Travis;
- Cassidy, Suzanne B.;
- Kimonis, Virginia E.
Publication type:
Article
Dental abnormalities in individuals with pathogenic germline variation in DICER1.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1820, doi. 10.1002/ajmg.a.61292
By:
- Choi, Sooji;
- Lee, Janice S.;
- Bassim, Carol W.;
- Kushner, Harvey;
- Carr, Ann G.;
- Gardner, Pamela J.;
- Harney, Laura A.;
- Schultz, Kris Ann P.;
- Stewart, Douglas R.
Publication type:
Article
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1866, doi. 10.1002/ajmg.a.61291
By:
- Hung, Christina Y.;
- Rodriguez, Mario;
- Roberts, Abra;
- Bauer, Mislen;
- Mihalek, Ivana;
- Bodamer, Olaf
Publication type:
Article
Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997–2011.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1799, doi. 10.1002/ajmg.a.61290
By:
- Nalbandyan, Marine;
- Howley, Meredith M.;
- Cunniff, Christopher M.;
- Romitti, Paul A.;
- Browne, Marilyn L.
Publication type:
Article
Epidemiology of achondroplasia: A population‐based study in Europe.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1791, doi. 10.1002/ajmg.a.61289
By:
- Coi, Alessio;
- Santoro, Michele;
- Garne, Ester;
- Pierini, Anna;
- Addor, Marie‐Claude;
- Alessandri, Jean‐Luc;
- Bergman, Jorieke E. H.;
- Bianchi, Fabrizio;
- Boban, Ljubica;
- Braz, Paula;
- Cavero‐Carbonell, Clara;
- Gatt, Miriam;
- Haeusler, Martin;
- Klungsøyr, Kari;
- Kurinczuk, Jennifer J.;
- Lanzoni, Monica;
- Lelong, Nathalie;
- Luyt, Karen;
- Mokoroa, Olatz;
- Mullaney, Carmel
Publication type:
Article
Annemarie Sommer memorial.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1689, doi. 10.1002/ajmg.a.61287
By:
- Hudgins, Louanne
Publication type:
Article
PDGRFB mutation‐associated myofibromatosis: Response to targeted therapy with imatinib.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1895, doi. 10.1002/ajmg.a.61283
By:
- Weller, Johannes M.;
- Keil, Vera C.;
- Gielen, Gerrit H.;
- Herrlinger, Ulrich;
- Schäfer, Niklas
Publication type:
Article
PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1884, doi. 10.1002/ajmg.a.61282
By:
- Bownass, Lucy;
- Abbs, Stephen;
- Armstrong, Ruth;
- Baujat, Genevieve;
- Behzadi, Gry;
- Berentsen, Ragnhild Drage;
- Burren, Christine;
- Calder, Alistair;
- Cormier‐Daire, Valérie;
- Newbury‐Ecob, Ruth;
- Foulds, Nicola;
- Juliusson, Petur B.;
- Kant, Sarina G.;
- Lefroy, Henrietta;
- Mehta, Sarju G.;
- Merckoll, Else;
- Michot, Caroline;
- Monsell, Fergal;
- Offiah, Amaka C.;
- Richards, Allan
Publication type:
Article
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1783, doi. 10.1002/ajmg.a.61281
By:
- Dines, Jennifer N.;
- Liu, Yajuan J.;
- Neufeld‐Kaiser, Whitney;
- Sawyer, Taylor;
- Ishak, Gisele E.;
- Tully, Hannah M.;
- Racobaldo, Melissa;
- Sanchez‐Valle, Amarilis;
- Disteche, Christine M.;
- Juusola, Jane;
- Torti, Erin;
- McWalter, Kirsty;
- Doherty, Dan;
- Dipple, Katrina M.
Publication type:
Article
MAP1B related syndrome: Case presentation and review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1703, doi. 10.1002/ajmg.a.61280
By:
- Julca, Diana M.;
- Diaz, Jullianne;
- Berger, Seth;
- Leon, Eyby
Publication type:
Article
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1878, doi. 10.1002/ajmg.a.61276
By:
- Lee, Cheng‐Ting;
- Tung, Yi‐Ching;
- Hwu, Wuh‐Liang;
- Shih, Jin‐Chung;
- Lin, Wen‐Hsi;
- Wu, Mu‐Zon;
- Kuo, Kuan‐Ting;
- Yang, Yung‐Li;
- Chen, Huey‐Ling;
- Chen, Ming;
- Su, Yi‐Ning;
- Jong, Yiin‐Jeng;
- Liu, Shih‐Yao;
- Tsai, Wen‐Yu;
- Lee, Ni‐Chung
Publication type:
Article
SHOX far‐downstream copy‐number variations involving cis‐regulatory nucleotide variants in two sisters with Leri‐Weill dyschondrosteosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1778, doi. 10.1002/ajmg.a.61275
By:
- Ogushi, Kenichiro;
- Muroya, Koji;
- Shima, Hirohito;
- Jinno, Tomoko;
- Miyado, Mami;
- Fukami, Maki
Publication type:
Article
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1764, doi. 10.1002/ajmg.a.61274
By:
- Gupta, Aditi;
- Zimmermann, Michael T.;
- Wang, Haitao;
- Broski, Stephen M.;
- Sigafoos, Ashley N.;
- Macklin, Sarah K.;
- Urrutia, Raul A.;
- Clark, Karl J.;
- Atwal, Paldeep S.;
- Pignolo, Robert J.;
- Klee, Eric W.
Publication type:
Article
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1756, doi. 10.1002/ajmg.a.61273
By:
- Lehalle, Daphné;
- Colombo, Roberto;
- O'Grady, Michael;
- Héron, Bénédicte;
- Houcinat, Nada;
- Kuentz, Paul;
- Moutton, Sebastien;
- Sorlin, Arthur;
- Thevenon, Julien;
- Delanne, Julian;
- Gay, Sebastien;
- Racine, Caroline;
- Garde, Aurore;
- Tran Mau‐Them, Frédéric;
- Philippe, Christophe;
- Vitobello, Antonio;
- Nambot, Sophie;
- Huet, Frédéric;
- Duffourd, Yannis;
- Feillet, François
Publication type:
Article
Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1745, doi. 10.1002/ajmg.a.61272
By:
- Madsen, Andrea;
- Fredwall, Svein O.;
- Maanum, Grethe;
- Henriksen, Christine;
- Slettahjell, Hanne B.
Publication type:
Article
Publication schedule for 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1683, doi. 10.1002/ajmg.a.40458
Publication type:
Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1725, doi. 10.1002/ajmg.a.61270
By:
- Gripp, Karen W.;
- Morse, Lindsey A.;
- Axelrad, Marni;
- Chatfield, Kathryn C.;
- Chidekel, Aaron;
- Dobyns, William;
- Doyle, Daniel;
- Kerr, Bronwyn;
- Lin, Angela E.;
- Schwartz, David D.;
- Sibbles, Barbara J.;
- Siegel, Dawn;
- Shankar, Suma P.;
- Stevenson, David A.;
- Thacker, Mihir M.;
- Weaver, K. Nicole;
- White, Sue M.;
- Rauen, Katherine A.
Publication type:
Article
Table of Contents, Volume 179A, Number 9, September 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1679, doi. 10.1002/ajmg.a.40457
Publication type:
Article