Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 8

Results: 37

Renal anomalies and lymphedema distichiasis syndrome. A rare association?
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2251, doi. 10.1002/ajmg.a.38293
By:
- Jones, Gabriela E.;
- Richmond, Anna K.;
- Navti, Osric;
- Mousa, Hatem A.;
- Abbs, Stephen;
- Thompson, Edward;
- Mansour, Sahar;
- Vasudevan, Pradeep C.
Publication type:
Article
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2101, doi. 10.1002/ajmg.a.38277
By:
- Luo, Minjie;
- Fan, Jinbo;
- Wenger, Tara L.;
- Harr, Margaret H.;
- Racobaldo, Melissa;
- Mulchandani, Surabhi;
- Dubbs, Holly;
- Zackai, Elaine H.;
- Spinner, Nancy B.;
- Conlin, Laura K.
Publication type:
Article
37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.
Published in:
2017
By:
- Keppler‐Noreuil, Kim M.;
- Martinez‐Agosto, Julian A.;
- Hudgins, Louanne;
- Carey, John C.
Publication type:
Other
Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2293, doi. 10.1002/ajmg.a.38290
By:
- Postema, Floor A. M.;
- Hopman, Saskia M. J.;
- Deardorff, Matthew A.;
- Merks, Johannes H. M.;
- Hennekam, Raoul C.
Publication type:
Article
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2240, doi. 10.1002/ajmg.a.38291
By:
- Maselli, Ricardo A.;
- Arredondo, Juan;
- Vázquez, Jessica;
- Chong, Jessica X.;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Lara, Marian;
- Ng, Fiona;
- Lo, Victoria L.;
- Pytel, Peter;
- McDonald, Craig M.
Publication type:
Article
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2246, doi. 10.1002/ajmg.a.38292
By:
- Gold, Wendy A.;
- Sobreira, Nara;
- Wiame, Elsa;
- Marbaix, Alexandre;
- Van Schaftingen, Emile;
- Franzka, Patricia;
- Riley, Lisa G.;
- Worgan, Lisa;
- Hübner, Christian A.;
- Christodoulou, John;
- Adès, Lesley C.
Publication type:
Article
Phenotypes and genotypes in individuals with SMC1A variants.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2108, doi. 10.1002/ajmg.a.38279
By:
- Huisman, Sylvia;
- Mulder, Paul A.;
- Redeker, Egbert;
- Bader, Ingrid;
- Bisgaard, Anne‐Marie;
- Brooks, Alice;
- Cereda, Anna;
- Cinca, Constanza;
- Clark, Dinah;
- Cormier‐Daire, Valerie;
- Deardorff, Matthew A.;
- Diderich, Karin;
- Elting, Mariet;
- van Essen, Anthonie;
- FitzPatrick, David;
- Gervasini, Cristina;
- Gillessen‐Kaesbach, Gabriele;
- Girisha, Katta M.;
- Hilhorst‐Hofstee, Yvonne;
- Hopman, Saskia
Publication type:
Article
A tumor profile in Patau syndrome (trisomy 13).
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2088, doi. 10.1002/ajmg.a.38294
By:
- Satgé, Daniel;
- Nishi, Motoi;
- Sirvent, Nicolas;
- Vekemans, Michel;
- Chenard, Marie‐Pierre;
- Barnes, Ann
Publication type:
Article
A novel variant in MED12 gene: Further delineation of phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2257, doi. 10.1002/ajmg.a.38295
By:
- Narayanan, Dhanya L.;
- Phadke, Shubha R.
Publication type:
Article
On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2219, doi. 10.1002/ajmg.a.38296
By:
- Topa, Alexandra;
- Samuelsson, Lena;
- Lovmar, Lovisa;
- Stenman, Göran;
- Kölby, Lars
Publication type:
Article
Cover Image, Volume 173A, Number 8, August 2017.
Published in:
2017
By:
- Wojcik, Monica H.;
- Carmichael, Nikkola;
- Bieber, Frederick R.;
- Wiener, Daniel C.;
- Madan, Rachna;
- Pober, Barbara R.;
- Raby, Benjamin A.
Publication type:
Other
23andMe resumes giving consumers genetic health information.
Published in:
2017
Publication type:
Other
Greater focus on patient data sharing urged.
Published in:
2017
Publication type:
Other
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2097, doi. 10.1002/ajmg.a.38125
By:
- Eroglu, Yasemen;
- Nguyen‐Driver, Mina;
- Steiner, Robert D.;
- Merkens, Louise;
- Merkens, Mark;
- Roullet, Jean‐Baptiste;
- Elias, Ellen;
- Sarphare, Geeta;
- Porter, Forbes D.;
- Li, Chumei;
- Tierney, Elaine;
- Nowaczyk, Małgorzata J.;
- Freeman, Kurt A.
Publication type:
Article
Growth charts for Australian children with achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2189, doi. 10.1002/ajmg.a.38312
By:
- Tofts, Louise;
- Das, Sandeep;
- Collins, Felicity;
- Burton, Karen L. O.
Publication type:
Article
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2201, doi. 10.1002/ajmg.a.38313
By:
- Fukushi, Daisuke;
- Kurosawa, Kenji;
- Suzuki, Yasuyo;
- Suzuki, Kaoru;
- Yamada, Kenichiro;
- Watanabe, Seiji;
- Yokochi, Kenji;
- Wakamatsu, Nobuaki
Publication type:
Article
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2275, doi. 10.1002/ajmg.a.38314
By:
- Alhariri, Ahmad;
- Hamilton, Katherine;
- Oza, Vikash;
- Cordoro, Kelly;
- Sobreira, Nara L.;
- Malloy, Mary;
- Slavotinek, Anne
Publication type:
Article
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2210, doi. 10.1002/ajmg.a.38316
By:
- Lindsey, Spencer;
- Brewer, Carmen;
- Stakhovskaya, Olga;
- Kim, Hung Jeffrey;
- Zalewski, Chris;
- Bryant, Joy;
- King, Kelly A.;
- Naggert, Jürgen K.;
- Gahl, William A.;
- Marshall, Jan D.;
- Gunay‐Aygun, Meral
Publication type:
Article
Co-occurrence of Jalili syndrome and muscular overgrowth.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2280, doi. 10.1002/ajmg.a.38318
By:
- Wawrocka, Anna;
- Walczak‐Sztulpa, Joanna;
- Badura‐Stronka, Magdalena;
- Owecki, Michal;
- Kopczynski, Przemysław;
- Mrukwa‐Kominek, Ewa;
- Skorczyk‐Werner, Anna;
- Gasperowicz, Piotr;
- Ploski, Rafal;
- Krawczynski, Maciej R.
Publication type:
Article
Table of Contents, Volume 173A, Number 8, August 2017.
Published in:
2017
Publication type:
Other
Publication schedule for 2017.
Published in:
2017
Publication type:
Other
In this issue.
Published in:
2017
Publication type:
Other
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2226, doi. 10.1002/ajmg.a.38281
By:
- Hewson, Stacy;
- Puka, Klajdi;
- Mercimek‐Mahmutoglu, Saadet
Publication type:
Article
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2235, doi. 10.1002/ajmg.a.38289
By:
- Wojcik, Monica H.;
- Carmichael, Nikkola;
- Bieber, Frederick R.;
- Wiener, Daniel C.;
- Madan, Rachna;
- Pober, Barbara R.;
- Raby, Benjamin A.
Publication type:
Article
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
By:
- Lévy, Jonathan;
- Coussement, Aurélie;
- Dupont, Céline;
- Guimiot, Fabien;
- Baumann, Clarisse;
- Viot, Géraldine;
- Passemard, Sandrine;
- Capri, Yline;
- Drunat, Séverine;
- Verloes, Alain;
- Pipiras, Eva;
- Benzacken, Brigitte;
- Dupont, Jean‐Michel;
- Tabet, Anne‐Claude
Publication type:
Article
Associated anomalies in cases with esophageal atresia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2139, doi. 10.1002/ajmg.a.38303
By:
- Stoll, Claude;
- Alembik, Yves;
- Dott, Beatrice;
- Roth, Marie‐Paule
Publication type:
Article
Neuroradiographic findings in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2158, doi. 10.1002/ajmg.a.38304
By:
- Bohm, Lauren A.;
- Zhou, Tom C.;
- Mingo, Tyler J.;
- Dugan, Sarah L.;
- Patterson, Richard J.;
- Sidman, James D.;
- Roby, Brianne B.
Publication type:
Article
Anthropometric charts and congenital anomalies in newborns with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2166, doi. 10.1002/ajmg.a.38305
By:
- Mircher, Clotilde;
- Toulas, Jeanne;
- Cieuta‐Walti, Cécile;
- Marey, Isabelle;
- Conte, Martine;
- González Briceño, Laura;
- Tanguy, Marie‐Laure;
- Rethore, Marie‐Odile;
- Ravel, Aime
Publication type:
Article
A mutation in GABRB3 associated with Dravet syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2126, doi. 10.1002/ajmg.a.38282
By:
- Le, Sy Vinh;
- Le, Phan Hoang Truc;
- Le, Thi Khanh Van;
- Kieu Huynh, Thi Thuy;
- Hang Do, Thi Thu
Publication type:
Article
Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2074, doi. 10.1002/ajmg.a.38283
By:
- Dudoignon, Benjamin;
- Amaddeo, Alessandro;
- Frapin, Annick;
- Thierry, Briac;
- de Sanctis, Livio;
- Arroyo, Jorge Olmo;
- Khirani, Sonia;
- Fauroux, Brigitte
Publication type:
Article
Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2284, doi. 10.1002/ajmg.a.38284
By:
- Li, Lin;
- Huang, Linhuan;
- Lin, Shaobin;
- Luo, Yanmin;
- Fang, Qun
Publication type:
Article
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2132, doi. 10.1002/ajmg.a.38285
By:
- Riehmer, Vera;
- Erger, Florian;
- Herkenrath, Peter;
- Seland, Saskia;
- Jackels, Miriam;
- Wiater, Alfred;
- Heller, Raoul;
- Beck, Bodo B.;
- Netzer, Christian
Publication type:
Article
4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2289, doi. 10.1002/ajmg.a.38286
By:
- Gaspar, Harald;
- Lutz, Bernd;
- Reicherter, Kerstin;
- Lühl, Simon;
- Taurman, Rita;
- Gabriel, Heinz;
- Brenner, Rolf E.;
- Borck, Guntram
Publication type:
Article
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2231, doi. 10.1002/ajmg.a.38288
By:
- Reuter, Miriam S.;
- Krumbiegel, Mandy;
- Schlüter, Gregor;
- Ekici, Arif B.;
- Reis, André;
- Zweier, Christiane
Publication type:
Article
A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2261, doi. 10.1002/ajmg.a.38306
By:
- Parsons, Samuel J. H.;
- Wright, Neville B.;
- Burkitt‐Wright, Emma;
- Skae, Mars S.;
- Murray, Phillip G.
Publication type:
Article
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2176, doi. 10.1002/ajmg.a.38309
By:
- Hanchard, Neil A.;
- Umana, Luis A.;
- D'Alessandro, Lisa;
- Azamian, Mahshid;
- Poopola, Mojisola;
- Morris, Shaine A.;
- Fernbach, Susan;
- Lalani, Seema R.;
- Towbin, Jeffrey A.;
- Zender, Gloria A.;
- Fitzgerald‐Butt, Sara;
- Garg, Vidu;
- Bowman, Jessica;
- Zapata, Gladys;
- Hernandez, Patricia;
- Arrington, Cammon B.;
- Furthner, Dieter;
- Prakash, Siddharth K.;
- Bowles, Neil E.;
- McBride, Kim L.
Publication type:
Article
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2268, doi. 10.1002/ajmg.a.38307
By:
- Mathieu, Marie‐Laure;
- Demily, Caroline;
- Chantot‐Bastaraud, Sandra;
- Afenjar, Alexandra;
- Mignot, Cyril;
- Andrieux, Joris;
- Gerard, Marion;
- Catala‐Mora, Jaume;
- Jouk, Pierre Simon;
- Labalme, Audrey;
- Edery, Patrick;
- Sanlaville, Damien;
- Rossi, Massimiliano
Publication type:
Article