Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 2

Results: 44

Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 352, doi. 10.1002/ajmg.a.37868
By:
- Dimopoulos, Aggeliki;
- Sicko, Robert J.;
- Kay, Denise M.;
- Rigler, Shannon L.;
- Fan, Ruzong;
- Romitti, Paul A.;
- Browne, Marilyn L.;
- Druschel, Charlotte M.;
- Caggana, Michele;
- Brody, Lawrence C.;
- Mills, James L.
Publication type:
Article
Cover Image, Volume 173A, Number 2, February 2017.
Published in:
2017
By:
- Maussion, Gilles;
- Cruceanu, Cristiana;
- Rosenfeld, Jill A.;
- Bell, Scott C.;
- Jollant, Fabrice;
- Szatkiewicz, Jin;
- Collins, Ryan L.;
- Hanscom, Carrie;
- Kolobova, Ilaria;
- de Champfleur, Nicolas Menjot;
- Blumenthal, Ian;
- Chiang, Colby;
- Ota, Vanessa;
- Hultman, Christina;
- O'Dushlaine, Colm;
- McCarroll, Steve;
- Alda, Martin;
- Jacquemont, Sebastien;
- Ordulu, Zehra;
- Marshall, Christian R.
Publication type:
Other
Table of Contents & Publication Schedule, Volume 173A, Number 2, February 2017.
Published in:
2017
Publication type:
Other
In this issue.
Published in:
2017
Publication type:
Other
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 479, doi. 10.1002/ajmg.a.37974
By:
- Mary, Laura;
- Scheidecker, Sophie;
- Kohler, Monique;
- Lombardi, Maria‐Paola;
- Delezoide, Anne‐Lise;
- Auberger, Elisabeth;
- Triau, Stéphane;
- Colin, Estelle;
- Gerard, Marion;
- Grzeschik, Karl‐Heinz;
- Dollfus, Hélène;
- Antal, Maria Cristina
Publication type:
Article
A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 324, doi. 10.1002/ajmg.a.37979
By:
- Ho, Karen S.;
- Wassman, E. Robert
Publication type:
Article
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 360, doi. 10.1002/ajmg.a.38011
By:
- Toda, Naoko;
- Ihara, Kenji;
- Kojima‐Ishii, Kanako;
- Ochiai, Masayuki;
- Ohkubo, Kazuhiro;
- Kawamoto, Yutaka;
- Kohno, Yoshinori;
- Kumasaka, Sakae;
- Kawase, Akihiko;
- Ueno, Yasuhisa;
- Futatani, Takeshi;
- Miyazawa, Tokuo;
- Nagaoki, Yuko;
- Nakata, Setsuko;
- Misaki, Maiko;
- Arai, Hiroko;
- Kawai, Masahiko;
- Sato, Maki;
- Yada, Yukari;
- Takahashi, Nobuhiro
Publication type:
Article
Distal limb anomalies in patients with congenital dyserythropoietic anemia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 487, doi. 10.1002/ajmg.a.38012
By:
- Amir, Achiya Zvi;
- Horev, Gadi;
- Yacobovich, Joanne;
- Bennett, Michael;
- Tamary, Hannah
Publication type:
Article
Critical congenital heart defects and abnormal levels of routinely collected first- and second-trimester biomarkers.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 368, doi. 10.1002/ajmg.a.38013
By:
- Borelli, Melissa;
- Baer, Rebecca J.;
- Chambers, Christina D.;
- Smith, Tyler C.;
- Jelliffe‐Pawlowski, Laura L.
Publication type:
Article
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 375, doi. 10.1002/ajmg.a.38014
By:
- Harmatz, Paul R.;
- Mengel, Eugen;
- Geberhiwot, Tarekegn;
- Muschol, Nicole;
- Hendriksz, Christian J.;
- Burton, Barbara K.;
- Jameson, Elisabeth;
- Berger, Kenneth I.;
- Jester, Andrea;
- Treadwell, Marsha;
- Sisic, Zlatko;
- Decker, Celeste
Publication type:
Article
Subclinical dysphagia in persons with Prader-Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 384, doi. 10.1002/ajmg.a.38015
By:
- Gross, Roxann Diez;
- Gisser, Ronit;
- Cherpes, Gregory;
- Hartman, Katie;
- Maheshwary, Rishi
Publication type:
Article
The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980-2012 with a review of risk factors and familial cases.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 299, doi. 10.1002/ajmg.a.38016
By:
- Lowry, Robert Brian;
- Bedard, Tanya;
- Sibbald, Barbara
Publication type:
Article
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 327, doi. 10.1002/ajmg.a.38022
By:
- Zarate, Yuri A.;
- Fish, Jennifer L.
Publication type:
Article
Learning the importance of double diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 568, doi. 10.1002/ajmg.a.38018
By:
- Hunter, Alasdair G. W.
Publication type:
Article
TBCK-related intellectual disability syndrome: Case study of two patients.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 491, doi. 10.1002/ajmg.a.38019
By:
- Mandel, Hanna;
- Khayat, Morad;
- Chervinsky, Elana;
- Elpeleg, Orly;
- Shalev, Stavit
Publication type:
Article
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 495, doi. 10.1002/ajmg.a.38020
By:
- Murakoshi, Miki;
- Takasawa, Kei;
- Nishioka, Masato;
- Asakawa, Masahiro;
- Kashimada, Kenichi;
- Yoshimoto, Takanobu;
- Yamamoto, Toshiyuki;
- Takekoshi, Kazuhiro;
- Ogawa, Yoshihiro;
- Shimohira, Masayuki
Publication type:
Article
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 395, doi. 10.1002/ajmg.a.38021
By:
- Maussion, Gilles;
- Cruceanu, Cristiana;
- Rosenfeld, Jill A.;
- Bell, Scott C.;
- Jollant, Fabrice;
- Szatkiewicz, Jin;
- Collins, Ryan L.;
- Hanscom, Carrie;
- Kolobova, Ilaria;
- de Champfleur, Nicolas Menjot;
- Blumenthal, Ian;
- Chiang, Colby;
- Ota, Vanessa;
- Hultman, Christina;
- O'Dushlaine, Colm;
- McCarroll, Steve;
- Alda, Martin;
- Jacquemont, Sebastien;
- Ordulu, Zehra;
- Marshall, Christian R.
Publication type:
Article
Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 309, doi. 10.1002/ajmg.a.38017
By:
- Goetze, Thayse Bienert;
- Sleifer, Pricila;
- Rosa, Rafael Fabiano Machado;
- da Silva, Alessandra Pawelec;
- Graziadio, Carla;
- Zen, Paulo Ricardo Gazzola
Publication type:
Article
Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 501, doi. 10.1002/ajmg.a.38023
By:
- Ferreira, Carlos R.;
- Devaney, Joseph M.;
- Hofherr, Sean E.;
- Pollard, Laura M.;
- Cusmano‐Ozog, Kristina
Publication type:
Article
Creation of an international registry to support discovery in schwannomatosis.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 407, doi. 10.1002/ajmg.a.38024
By:
- Ostrow, K. L.;
- Bergner, A. L.;
- Blakeley, J.;
- Evans, D. G.;
- Ferner, R.;
- Friedman, J. M.;
- Harris, G. J.;
- Jordan, J. T.;
- Korf, B.;
- Langmead, S.;
- Leschziner, G.;
- Mautner, V.;
- Merker, V. L.;
- Papi, L.;
- Plotkin, S. R.;
- Slopis, J. M.;
- Smith, M. J.;
- Stemmer‐Rachamimov, A.;
- Yohay, K.;
- Belzberg, A. J.
Publication type:
Article
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 510, doi. 10.1002/ajmg.a.38025
By:
- Sun, Yu;
- Hu, Guorui;
- Liu, Huili;
- Zhang, Xia;
- Huang, Zhuo;
- Yan, Hui;
- Wang, Lili;
- Fan, Yanjie;
- Gu, Xuefan;
- Yu, Yongguo
Publication type:
Article
Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 550, doi. 10.1002/ajmg.a.38026
By:
- Brett, Maggie;
- Lai, Angeline H. M.;
- Ting, Teck‐Wah;
- Tan, Ah‐Moy;
- Foo, Roger;
- Jamuar, Saumya;
- Tan, Ene‐Choo
Publication type:
Article
Review of familial cerebral cavernous malformations and report of seven additional families.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 338, doi. 10.1002/ajmg.a.38028
By:
- de Vos, Ivo J. H. M.;
- Vreeburg, Maaike;
- Koek, Ger H.;
- van Steensel, Maurice A. M.
Publication type:
Article
Camptodactyly and the 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 515, doi. 10.1002/ajmg.a.38029
By:
- Couser, Natario L.;
- Pande, Chetna K.;
- Walsh, Jonathan M.;
- Tepperberg, James;
- Aylsworth, Arthur S.
Publication type:
Article
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 414, doi. 10.1002/ajmg.a.38030
By:
- Wenger, Tara L.;
- Chow, Penny;
- Randle, Stephanie C.;
- Rosen, Anna;
- Birgfeld, Craig;
- Wrede, Joanna;
- Javid, Patrick;
- King, Darcy;
- Manh, Vivian;
- Hing, Anne V.;
- Albers, Erin
Publication type:
Article
Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 421, doi. 10.1002/ajmg.a.38031
By:
- Boardman, Felicity K.;
- Young, Philip J.;
- Griffiths, Frances E.
Publication type:
Article
Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 519, doi. 10.1002/ajmg.a.38033
By:
- Baas, Annette F.;
- Spiering, Wilko;
- Moll, Frans L.;
- Page‐Christiaens, Lieve;
- Beenakkers, Ingrid C. M.;
- Dooijes, Dennis;
- Vonken, Evert‐Jan P. A.;
- van der Smagt, Jasper J.;
- Knoers, Nine V.;
- Koenen, Steven V.;
- van Herwaarden, Joost A.;
- Sieswerda, Gertjan Tj.
Publication type:
Article
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 435, doi. 10.1002/ajmg.a.38034
By:
- Dennert, Nicola;
- Engels, Hartmut;
- Cremer, Kirsten;
- Becker, Jessica;
- Wohlleber, Eva;
- Albrecht, Beate;
- Ehret, Julia K.;
- Lüdecke, Hermann‐Josef;
- Suri, Mohnish;
- Carignani, Giulia;
- Renieri, Alessandra;
- Kukuk, Guido M.;
- Wieland, Thomas;
- Andrieux, Joris;
- Strom, Tim M.;
- Wieczorek, Dagmar;
- Dieux‐Coëslier, Anne;
- Zink, Alexander M.
Publication type:
Article
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 524, doi. 10.1002/ajmg.a.38035
By:
- Colombi, Marina;
- Dordoni, Chiara;
- Venturini, Marina;
- Zanca, Arianna;
- Calzavara‐Pinton, Piergiacomo;
- Ritelli, Marco
Publication type:
Article
Trisomy 18 and eye anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 553, doi. 10.1002/ajmg.a.38036
By:
- Correia, Jamile D.;
- da Rosa, Ernani B.;
- Silveira, Daniélle B.;
- Correia, Elisa P. E.;
- Lorenzen, Marina B.;
- Travi, Giovanni M.;
- Rosa, Rosana C. M.;
- Zen, Paulo R. G.;
- Zen, Tatiana D.;
- Rosa, Rafael F. M.
Publication type:
Article
Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 556, doi. 10.1002/ajmg.a.38039
By:
- Bonuccelli, Alice;
- Valetto, Angelo;
- Orsini, Alessandro;
- Michelucci, Angela;
- Ferrari, Anna Rita;
- Elia, Maurizio;
- Bertini, Veronica
Publication type:
Article
A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 561, doi. 10.1002/ajmg.a.38041
By:
- Philbert, Marion;
- Maillard, Camille;
- Cavallin, Mara;
- Goldenberg, Alice;
- Masson, Cecile;
- Boddaert, Nathalie;
- El Morjani, Adrienne;
- Steffann, Julie;
- Chelly, Jamel;
- Gerard, Xavier;
- Bahi‐Buisson, Nadia
Publication type:
Article
' They Can't Find Anything Wrong with Him, Yet': Mothers' experiences of parenting an infant with a prenatally diagnosed copy number variant (CNV).
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 444, doi. 10.1002/ajmg.a.38042
By:
- Werner‐Lin, Allison;
- Walser, Sarah;
- Barg, Frances K.;
- Bernhardt, Barbara A.
Publication type:
Article
Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 452, doi. 10.1002/ajmg.a.38044
By:
- Pierpont, Elizabeth I.;
- Semrud‐Clikeman, Margaret;
- Pierpont, Mary Ella
Publication type:
Article
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 531, doi. 10.1002/ajmg.a.38045
By:
- Baurand, Amandine;
- Falcon‐Eicher, Sylvie;
- Laurent, Gabriel;
- Villain, Elisabeth;
- Bonnet, Caroline;
- Thauvin‐Robinet, Christel;
- Jacquot, Caroline;
- Eicher, Jean‐Christophe;
- Gourraud, Jean‐Baptiste;
- Schmitt, Sébastien;
- Bézieau, Stéphane;
- Giraud, Mathilde;
- Dumont, Solenne;
- Kuentz, Paul;
- Probst, Vincent;
- Burguet, Antoine;
- Kyndt, Florence;
- Faivre, Laurence
Publication type:
Article
Homozygous variants in pyrroline-5-carboxylate reductase 2 ( PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 460, doi. 10.1002/ajmg.a.38049
By:
- Meng, Linyan;
- Donti, Taraka;
- Xia, Fan;
- Niu, Zhiyv;
- Al Shamsi, Aisha;
- Hertecant, Jozef;
- Al‐Jasmi, Fatma;
- Gibson, James B.;
- Nagakura, Honey;
- Zhang, Jing;
- He, Weimin;
- Eng, Christine;
- Yang, Yaping;
- Elsea, Sarah H.
Publication type:
Article
Characterization of pain, disability, and psychological burden in Marfan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 315, doi. 10.1002/ajmg.a.38051
By:
- Speed, Traci J.;
- Mathur, Vani A.;
- Hand, Matthew;
- Christensen, Bryt;
- Sponseller, Paul D.;
- Williams, Kayode A.;
- Campbell, Claudia M.
Publication type:
Article
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 537, doi. 10.1002/ajmg.a.38052
By:
- Castilla‐Cortázar, Inma;
- Rodríguez De Ita, Julieta;
- Martín‐Estal, Irene;
- Castorena, Fabiola;
- Aguirre, Gabriel A.;
- García de la Garza, Rocío;
- Elizondo, Martha I.
Publication type:
Article
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 471, doi. 10.1002/ajmg.a.38053
By:
- Purizaca‐Rosillo, Nelson;
- Mori, Takayasu;
- Benites‐Cóndor, Yamali;
- Hisama, Fuki M.;
- Martin, George M.;
- Oshima, Junko
Publication type:
Article
Novel EED mutation in patient with Weaver syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 541, doi. 10.1002/ajmg.a.38055
By:
- Cooney, Erin;
- Bi, Weimin;
- Schlesinger, Alan E.;
- Vinson, Sherry;
- Potocki, Lorraine
Publication type:
Article
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 565, doi. 10.1002/ajmg.a.38056
By:
- Zambrano, Regina M.;
- Marble, Michael;
- Chalew, Stuart A.;
- Lilje, Christian;
- Vargas, Alfonso;
- Lacassie, Yves
Publication type:
Article
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 546, doi. 10.1002/ajmg.a.38057
By:
- Cianci, Paola;
- Fazio, Grazia;
- Casagranda, Sara;
- Spinelli, Marco;
- Rizzari, Carmelo;
- Cazzaniga, Gianni;
- Selicorni, Angelo
Publication type:
Article
Resolving different interpretations of gene variants boosts effective use of test results.
Published in:
2017
Publication type:
Other
Non-European populations still underrepresented in genomic testing samples.
Published in:
2017
Publication type:
Other