Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 1

Results: 45

Clinical utility of the X-chromosome array.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 120, doi. 10.1002/ajmg.a.35698
By:
- Zarate, Yuri A.;
- Dwivedi, Alka;
- Bartel, Frank O.;
- Bellomo, M. Allison;
- Cathey, Sara S.;
- Champaigne, Neena L.;
- Clarkson, L. Kate;
- DuPont, Barbara R.;
- Everman, David B.;
- Geer, Joseph S.;
- Gordon, Barbara C.;
- Lichty, Angie W.;
- Lyons, Michael J.;
- Rogers, R. Curtis;
- Saul, Robert A.;
- Schroer, Richard J.;
- Skinner, Steven A.;
- Stevenson, Roger E.
Publication type:
Article
Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: Additional evidence of a brain phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 102, doi. 10.1002/ajmg.a.35687
By:
- Booij, Jan;
- Reneman, Liesbeth;
- Alders, Marielle;
- Kuijpers, Taco W.
Publication type:
Article
Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 179, doi. 10.1002/ajmg.a.35658
By:
- Hu, Jie;
- Sathanoori, Malini;
- Kochmar, Sally;
- Madan‐Khetarpal, Suneeta;
- McGuire, Marianne;
- Surti, Urvashi
Publication type:
Article
The prevalence of lip vermilion morphological traits in a 15-year-old population.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 4, doi. 10.1002/ajmg.a.35515
By:
- Wilson, Caryl;
- Playle, Rebecca;
- Toma, Arshed;
- Zhurov, Alexei;
- Ness, Andy;
- Richmond, Stephen
Publication type:
Article
Severe hypertrophic cardiomyopathy in Noonan syndrome-consider sequencing genes encoding sarcomeric proteins.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 230, doi. 10.1002/ajmg.a.35669
By:
- McBride, Kim L.
Publication type:
Article
Word smithing in medical genetics. Part II.
Published in:
2013
By:
- Cohen Jr., M. Michael
Publication type:
Editorial
In this issue.
Published in:
2013
Publication type:
Other
American Journal of Medical Genetics Part A: Volume 161A, Number 1, January 2013.
Published in:
2013
Publication type:
Other
Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 137, doi. 10.1002/ajmg.a.35701
By:
- Mills, Kimberly I.;
- Anderson, Jacqueline;
- Levy, Philip T.;
- Cole, F. Sessions;
- Silva, Jennifer N.A.;
- Kulkarni, Shashikant;
- Shinawi, Marwan
Publication type:
Article
Weaver syndrome and defective cortical development: A rare association.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 225, doi. 10.1002/ajmg.a.35660
By:
- Al‐Salem, Ahmed;
- Alshammari, Muneera J.;
- Hassan, Hamdy;
- Alazami, Anas M.;
- Alkuraya, Fowzan S.
Publication type:
Article
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 198, doi. 10.1002/ajmg.a.35671
By:
- Montgomery, Nathan D.;
- Turcott, Christie M.;
- Tepperberg, James H.;
- McDonald, Marie T.;
- Aylsworth, Arthur S.
Publication type:
Article
Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 70, doi. 10.1002/ajmg.a.35682
By:
- Nabukera, Sarah K.;
- Romitti, Paul A.;
- Caspers, Kristin M.;
- Street, Natalie;
- Cunniff, Christopher;
- Mathews, Katherine D.;
- Fox, Deborah J.;
- Puzhankara, Soman;
- Ciafaloni, Emma;
- James, Katherine A.;
- Su, Yin
Publication type:
Article
Characterization of fat distribution in Prader-Willi syndrome: Relationships with adipocytokines and influence of growth hormone treatment.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 27, doi. 10.1002/ajmg.a.35653
By:
- Tanaka, Yuriko;
- Abe, Yoshiko;
- Oto, Yuji;
- Itabashi, Hisashi;
- Shiraishi, Masahisa;
- Yoshino, Atsunori;
- Obata, Kazuo;
- Murakami, Nobuyuki;
- Nagai, Toshiro
Publication type:
Article
Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 214, doi. 10.1002/ajmg.a.35693
By:
- Kasahara, Toshihiko;
- Narumi, Satoshi;
- Okasora, Keisuke;
- Takaya, Ryuzo;
- Tamai, Hiroshi;
- Hasegawa, Tomonobu
Publication type:
Article
Online repository lets researchers view newborn blood spots in several states simultaneously.
Published in:
2013
Publication type:
Other
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 203, doi. 10.1002/ajmg.a.35686
By:
- Kimura‐Ohba, Shihoko;
- Kagitani‐Shimono, Kuriko;
- Hashimoto, Natsuko;
- Nabatame, Shin;
- Okinaga, Takeshi;
- Murakami, Akira;
- Miyake, Noriko;
- Matsumoto, Naomichi;
- Osaka, Hitoshi;
- Hojo, Keiko;
- Tomita, Reiko;
- Taniike, Masako;
- Ozono, Keiichi
Publication type:
Article
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 114, doi. 10.1002/ajmg.a.35697
By:
- Gripp, Karen W.;
- Hopkins, Elizabeth;
- Jenny, Kim;
- Thacker, Deepika;
- Salvin, Jonathan
Publication type:
Article
Severe craniosynostosis in an infant with deletion 22q11.2 syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 153, doi. 10.1002/ajmg.a.35491
By:
- Al‐Hertani, W.;
- Hastings, V.A.;
- McGowan‐Jordan, J.;
- Hurteau, J.;
- Graham, Gail E.
Publication type:
Article
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 192, doi. 10.1002/ajmg.a.35663
By:
- Kantaputra, Piranit Nik;
- Sittiwangkul, Rekwan;
- Sonsuwan, Nuntigar;
- Romanelli, Valeria;
- Tenorio, Jair;
- Lapunzina, Pablo
Publication type:
Article
Behavior in preschool children with the 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 94, doi. 10.1002/ajmg.a.35685
By:
- Klaassen, Petra;
- Duijff, Sasja;
- Swanenburg de Veye, Henriette;
- Vorstman, Jacob;
- Beemer, Frits;
- Sinnema, Gerben
Publication type:
Article
Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 34, doi. 10.1002/ajmg.a.35657
By:
- Matsuo, Terumichi;
- Ihara, Kenji;
- Ochiai, Masayuki;
- Kinjo, Tadamune;
- Yoshikawa, Yoko;
- Kojima‐Ishii, Kanako;
- Noda, Marie;
- Mizumoto, Hiroshi;
- Misaki, Maiko;
- Minagawa, Kyoko;
- Tominaga, Koji;
- Hara, Toshiro
Publication type:
Article
Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 76, doi. 10.1002/ajmg.a.35692
By:
- Nahar, Risha;
- Puri, Ratna D.;
- Saxena, Renu;
- Verma, Ishwar C.
Publication type:
Article
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 145, doi. 10.1002/ajmg.a.35737
By:
- Schrauwen, Isabelle;
- Sommen, Manou;
- Corneveaux, Jason J.;
- Reiman, Rebecca A.;
- Hackett, Nicole J.;
- Claes, Charlotte;
- Claes, Kathleen;
- Bitner‐Glindzicz, Maria;
- Coucke, Paul;
- Van Camp, Guy;
- Huentelman, Matthew J.
Publication type:
Article
'It's about having the choice': Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 48, doi. 10.1002/ajmg.a.35674
By:
- Archibald, Alison D.;
- Hickerton, Chriselle L.;
- Jaques, Alice M.;
- Wake, Samantha;
- Cohen, Jonathan;
- Metcalfe, Sylvia A.
Publication type:
Article
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 131, doi. 10.1002/ajmg.a.35700
By:
- Aldinger, Kimberly A.;
- Kogan, Jillene;
- Kimonis, Virginia;
- Fernandez, Bridget;
- Horn, Denise;
- Klopocki, Eva;
- Chung, Brian;
- Toutain, Annick;
- Weksberg, Rosanna;
- Millen, Kathleen J.;
- Barkovich, A. James;
- Dobyns, William B.
Publication type:
Article
Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 21, doi. 10.1002/ajmg.a.35652
By:
- Egger, Jos I.M.;
- Wingbermühle, Ellen;
- Verhoeven, Willem M.A.;
- Dijkman, Marije;
- Radke, Sina;
- de Bruijn, Ellen R.A.;
- de Vries, Bert;
- Kessels, Roy P.C.;
- Koolen, David
Publication type:
Article
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 13, doi. 10.1002/ajmg.a.35651
By:
- Inbar‐Feigenberg, Michal;
- Choufani, Sanaa;
- Cytrynbaum, Cheryl;
- Chen, Yi‐An;
- Steele, Leslie;
- Shuman, Cheryl;
- Ray, Peter N.;
- Weksberg, Rosanna
Publication type:
Article
Maternal perspectives on the return of genetic results: Context matters.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 38, doi. 10.1002/ajmg.a.35673
By:
- Lakes, Kimberley D.;
- Vaughan, Elaine;
- Lemke, Amy;
- Jones, Marissa;
- Wigal, Timothy;
- Baker, Dean;
- Swanson, James M.;
- Burke, Wylie
Publication type:
Article
The practice of adult genetics: A 7-year experience from a single center.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 89, doi. 10.1002/ajmg.a.35684
By:
- Eble, Tanya N.;
- Nagamani, Sandesh C.S.;
- Franco, Luis M.;
- Plon, Sharon E.;
- Blazo, Maria;
- Dhar, Shweta U.
Publication type:
Article
'Mandibulofacial dysostosis with microcephaly' caused by EFTUD2 mutations: Expanding the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 108, doi. 10.1002/ajmg.a.35696
By:
- Luquetti, Daniela V.;
- Hing, Anne V.;
- Rieder, Mark J.;
- Nickerson, Deborah A.;
- Turner, Emily H.;
- Smith, Joshua;
- Park, Sarah;
- Cunningham, Michael L.
Publication type:
Article
Non-familial cases of intellectual disability could be linked to de novo genetic mutations.
Published in:
2013
Publication type:
Other
Newborn screening and cascade testing for FMR1 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 59, doi. 10.1002/ajmg.a.35680
By:
- Sorensen, Page L.;
- Gane, Louise W.;
- Yarborough, Mark;
- Hagerman, Randi J.;
- Tassone, Flora
Publication type:
Article
Corrigendum to 'The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 [NF1] as a Paradigm for Translational Research'.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 236, doi. 10.1002/ajmg.a.35667
By:
- Acosta, Maria T.;
- Bearden, Carrie E.;
- Castellanos, Xavier F.;
- Cutting, Laurie;
- Elgersma, Ype;
- Gioia, Gerard;
- Gutmann, David H.;
- Lee, Yong‐Seok;
- Legius, Eric;
- Muenke, Maximillian;
- North, Kathryn;
- Parada, Luis F.;
- Ratner, Nancy;
- Hunter‐Schaedle, Kim;
- Silva, Alcino J.
Publication type:
Article
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 234, doi. 10.1002/ajmg.a.35678
By:
- Kakisaka, Yosuke;
- Haginoya, Kazuhiro;
- Takahashi, Yuko;
- Ochiai, Tatsuhiro;
- Fujiwara, Ikuma;
- Kikuchi, Atsuo;
- Wakusawa, Keisuke;
- Kobayashi, Satoru;
- Kikuchi, Hirosato;
- Ichihara, Yasuko;
- Takahashi, Shinichiro;
- Nishino, Ichizo
Publication type:
Article
Phelan-McDermid syndrome: Clinical report of a 70-year-old woman.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 158, doi. 10.1002/ajmg.a.35597
By:
- Verhoeven, Willem M.A.;
- Egger, Jos I.M.;
- Cohen‐Snuijf, Ruthy;
- Kant, Sarina G.;
- de Leeuw, Nicole
Publication type:
Article
Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 218, doi. 10.1002/ajmg.a.35695
By:
- Doelken, Sandra C.;
- Seeger, Karl;
- Hundsdoerfer, Patrick;
- Weber‐Ferro, Wencke;
- Klopocki, Eva;
- Graul‐Neumann, Luitgard
Publication type:
Article
Hypertrophic cardiomyopathy: How far should we go with genetic testing?
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 232, doi. 10.1002/ajmg.a.35666
By:
- Fahrner, Jill A.;
- Murphy, Anne M.;
- Gunay‐Aygun, Meral
Publication type:
Article
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 185, doi. 10.1002/ajmg.a.35659
By:
- Teekakirikul, Polakit;
- Milewicz, Dianna M.;
- Miller, David T.;
- Lacro, Ronald V.;
- Regalado, Ellen S.;
- Rosales, Ana Maria;
- Ryan, Daniel P.;
- Toler, Tomi L.;
- Lin, Angela E.
Publication type:
Article
Syndromes A, syndromes B, syndromes C.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 228, doi. 10.1002/ajmg.a.35442
By:
- Spranger, Jürgen
Publication type:
Article
Table of Contents, Volume 161A, Number 1, January 2013.
Published in:
2013
Publication type:
Other
Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 208, doi. 10.1002/ajmg.a.35690
By:
- Guimiot, F.;
- Dupont, C.;
- Fuentes‐Duarte, A.;
- Aboura, A.;
- Bazin, A.;
- Khung‐Savatovsky, S.;
- Tillous‐Borde, I.;
- Delezoide, A.‐L.;
- Azancot, A.
Publication type:
Article
Uterine structural anomalies and arthrogryposis-death of an urban legend.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 82, doi. 10.1002/ajmg.a.35683
By:
- Hall, Judith G.
Publication type:
Article
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 162, doi. 10.1002/ajmg.a.35614
By:
- Debost‐Legrand, Anne;
- Eymard‐Pierre, Eleonore;
- Pebrel‐Richard, Céline;
- Gouas, Laetitia;
- Goumy, Carole;
- Giollant, Michel;
- Ayed, Wiem;
- Tchirkov, Andreï;
- Francannet, Christine;
- Vago, Philippe
Publication type:
Article
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-Additional case and data's review.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 172, doi. 10.1002/ajmg.a.35654
By:
- Jezela‐Stanek, Aleksandra;
- Kucharczyk, Marzena;
- Pelc, Magdalena;
- Gutkowska, Anna;
- Krajewska‐Walasek, Małgorzata
Publication type:
Article
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: Utility of genome-wide SNP array.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 166, doi. 10.1002/ajmg.a.35625
By:
- Izumi, Kosuke;
- Santani, Avni B.;
- Deardorff, Matthew A.;
- Feret, Holly A.;
- Tischler, Tanya;
- Thiel, Brian D.;
- Mulchandani, Surabhi;
- Stolle, Catherine A.;
- Spinner, Nancy B.;
- Zackai, Elaine H.;
- Conlin, Laura K.
Publication type:
Article