Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 9

Results: 47

Higher plasma orexin a levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2328, doi. 10.1002/ajmg.a.37777

By:

Manzardo, Ann M.;
Johnson, Lisa;
Miller, Jennifer L.;
Driscoll, Daniel J.;
Butler, Merlin G.

Publication type:

Article

8q21.11 microdeletion in two patients with syndromic peters anomaly.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2471, doi. 10.1002/ajmg.a.37840

By:

Happ, Hannah;
Schilter, Kala F.;
Weh, Eric;
Reis, Linda M.;
Semina, Elena V.

Publication type:

Article

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2383, doi. 10.1002/ajmg.a.37602

By:

Yeetong, Patra;
Vilboux, Thierry;
Ciccone, Carla;
Boulier, Kristin;
Schnur, Rhonda E.;
Gahl, William A.;
Huizing, Marjan;
Laje, Gonzalo;
Smith, Ann C. M.

Publication type:

Article

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2404, doi. 10.1002/ajmg.a.37791

By:

Busche, Andreas;
Hehr, Ute;
Sieg, Peter;
Gillessen‐Kaesbach, Gabriele

Publication type:

Article

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2365, doi. 10.1002/ajmg.a.37793

By:

Bregand‐White, Julia;
Saller, Devereux N.;
Clemens, Michele;
Surti, Urvashi;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Article

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2486, doi. 10.1002/ajmg.a.37794

By:

Hebbar, Malavika;
Prasada L, Harsha;
Bhowmik, Aneek Das;
Trujillano, Daniel;
Shukla, Anju;
Chakraborti, Shrijeet;
Kandaswamy, Krishna Kumar;
Rolfs, Arndt;
Kamath, Nutan;
Dalal, Ashwin;
Bielas, Stephanie;
Girisha, Katta Mohan

Publication type:

Article

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2416, doi. 10.1002/ajmg.a.37797

By:

Sanmann, Jennifer N.;
Casas, Kari A.;
Bevilacqua, Jen;
Bishay, Danielle L.;
Clark, Tanner;
Van Dyke, A. Zephyr;
Leiferman, Patricia Crotwell;
Reddi, Honey V.;
Starr, Lois J.

Publication type:

Article

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2274, doi. 10.1002/ajmg.a.37798

By:

Horn, Denise;
Weschke, Bernhard;
Knierim, Ellen;
Fischer‐Zirnsak, Björn;
Stenzel, Werner;
Schuelke, Markus;
Zemojtel, Tomasz

Publication type:

Article

Is one diagnosis the whole story? patients with double diagnoses.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2338, doi. 10.1002/ajmg.a.37799

By:

Kurolap, Alina;
Orenstein, Naama;
Kedar, Inbal;
Weisz Hubshman, Monika;
Tiosano, Dov;
Mory, Adi;
Levi, Zohar;
Marom, Daphna;
Cohen, Lior;
Ekhilevich, Nina;
Douglas, Jessica;
Nowak, Catherine Bearce;
Tan, Wen‐Hann;
Baris, Hagit N.

Publication type:

Article

Analysis of peripheral amyloid precursor protein in Angelman Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2334, doi. 10.1002/ajmg.a.37811

By:

Erickson, Craig A.;
Wink, Logan K.;
Baindu, Bayon;
Ray, Balmiki;
Schaefer, Tori L.;
Pedapati, Ernest V.;
Lahiri, Debomoy K.

Publication type:

Article

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2301, doi. 10.1002/ajmg.a.37812

By:

Halbach, Nicky;
Smeets, Eric E.;
Julu, Peter;
Witt‐Engerström, Ingegerd;
Pini, Giorgio;
Bigoni, Stefania;
Hansen, Stig;
Apartopoulos, Flora;
Delamont, Robert;
van Roozendaal, Kees;
Scusa, Maria F.;
Borelli, Paolo;
Candel, Math;
Curfs, Leopold

Publication type:

Article

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2349, doi. 10.1002/ajmg.a.37814

By:

Croonen, Ellen A.;
Harmsen, Mirjam;
Van der Burgt, Ineke;
Draaisma, Jos M.;
Noordam, Kees;
Essink, Marlou;
Nijhuis‐van der Sanden, Maria W. G.

Publication type:

Article

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2357, doi. 10.1002/ajmg.a.37815

By:

Bagattoni, Simone;
D'Alessandro, Giovanni;
Sadotti, Agnese;
Alkhamis, Nadia;
Rocca, Alessandro;
Cocchi, Guido;
Krantz, Ian David;
Piana, Gabriela

Publication type:

Article

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2372, doi. 10.1002/ajmg.a.37816

By:

Enriquez, Annabelle;
Krivanek, Michael;
Flöttmann, Ricarda;
Peters, Hartmut;
Wilson, Meredith

Publication type:

Article

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2431, doi. 10.1002/ajmg.a.37818

By:

de Lange, Iris M.;
Verrijn Stuart, Annemarie A.;
van der Luijt, Rob B.;
Ploos van Amstel, Hans Kristian;
van Haelst, Mieke M.

Publication type:

Article

Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2261, doi. 10.1002/ajmg.a.37881

By:

Kalish, Jennifer M.;
Deardorff, Matthew A.

Publication type:

Article

Cover Image, Volume 170A, Number 9, September 2016.

Published in:

2016

By:

Moosa, Shahida;
Fano, Virginia;
Obregon, Maria Gabriela;
Altmüller, Janine;
Thiele, Holger;
Nürnberg, Peter;
Nishimura, Gen;
Wollnik, Bernd

Publication type:

Other

Role of CFTR variants explored in developing cystic fibrosis symptoms.

Published in:: 2016
Publication type:: Other

HIPAA complaint alleges myriad genetics withheld variant data from patients.

Published in:: 2016
Publication type:: Other

De novo frameshift mutation in COUP-TFII ( NR2F2) in human congenital diaphragmatic hernia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2457, doi. 10.1002/ajmg.a.37830

By:

High, Frances A.;
Bhayani, Pooja;
Wilson, Jay M.;
Bult, Carol J.;
Donahoe, Patricia K.;
Longoni, Mauro

Publication type:

Article

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2310, doi. 10.1002/ajmg.a.37831

By:

Niederhoffer, Karen Y.;
Fahiminiya, Somayyeh;
Eydoux, Patrice;
Mawson, John;
Nishimura, Gen;
Jerome‐Majewska, Loydie A.;
Patel, Millan S.

Publication type:

Article

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2322, doi. 10.1002/ajmg.a.37832

By:

Szczałuba, Krzysztof;
Brzezinska, Monika;
Kot, Justyna;
Rydzanicz, Małgorzata;
Walczak, Anna;
Stawiński, Piotr;
Werner, Bożena;
Płoski, Rafał

Publication type:

Article

Mandibular dysostosis without microphthalmia caused by OTX2 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2466, doi. 10.1002/ajmg.a.37837

By:

Latypova, Xénia;
Bordereau, Sylvain;
Bleriot, Alice;
Pichon, Olivier;
Poulain, Damien;
Briand, Annaïg;
Le Caignec, Cédric;
Isidor, Bertrand

Publication type:

Article

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2462, doi. 10.1002/ajmg.a.37839

By:

Elalaoui, Siham Chafai;
Laarabi, Fatima Zahra;
Mansouri, Maria;
Mrani, Nidal Alaoui;
Nishimura, Gen;
Sefiani, Abdelaziz

Publication type:

Article

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2237, doi. 10.1002/ajmg.a.37781

By:

Gripp, Karen W.;
Aldinger, Kimberly A.;
Bennett, James T.;
Baker, Laura;
Tusi, Jessica;
Powell‐Hamilton, Nina;
Stabley, Deborah;
Sol‐Church, Katia;
Timms, Andrew E.;
Dobyns, William B.

Publication type:

Article

Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2282, doi. 10.1002/ajmg.a.37782

By:

Fisch, Gene S.;
Falk, Rena E.;
Carey, John C.;
Imitola, Jaime;
Sederberg, Maria;
Caravalho, Karen S.;
South, Sarah

Publication type:

Article

BRAT1 mutations present with a spectrum of clinical severity.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2265, doi. 10.1002/ajmg.a.37783

By:

Srivastava, Siddharth;
Olson, Heather E.;
Cohen, Julie S.;
Gubbels, Cynthia S.;
Lincoln, Sharyn;
Davis, Brigette Tippin;
Shahmirzadi, Layla;
Gupta, Siddharth;
Picker, Jonathan;
Yu, Timothy W.;
Miller, David T.;
Soul, Janet S.;
Poretti, Andrea;
Naidu, SakkuBai

Publication type:

Article

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2292, doi. 10.1002/ajmg.a.37784

By:

Boban, Sharolin;
Wong, Kingsley;
Epstein, Amy;
Anderson, Barbara;
Murphy, Nada;
Downs, Jenny;
Leonard, Helen

Publication type:

Article

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2394, doi. 10.1002/ajmg.a.37785

By:

Mackenroth, Luisa;
Hackmann, Karl;
Klink, Barbara;
Weber, Julia Sara;
Mayer, Brigitte;
Schröck, Evelin;
Tzschach, Andreas

Publication type:

Article

Deletion upstream of SALL1 producing Townes-Brocks syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2476, doi. 10.1002/ajmg.a.37786

By:

Stevens, Cathy A.;
May, Kristin M.

Publication type:

Article

Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2400, doi. 10.1002/ajmg.a.37787

By:

Rossi, Valentina;
Mosconi, Manuela;
Nozza, Paolo;
Murgia, Daniele;
Mattioli, Girolamo;
Ceccherini, Isabella;
Pini Prato, Alessio

Publication type:

Article

Urorectal septum malformation sequence-Fetal series with the description of a new 'intermediate' variant. Time to refine the terminology?

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2479, doi. 10.1002/ajmg.a.37788

By:

Huang, Kuan‐Ying;
Kuo, Kuan‐Ting;
Li, Yi‐Ping;
Chen, Ming;
Yu, Ching‐Uen;
Shih, Jin‐Chung

Publication type:

Article

RIN2 syndrome: Expanding the clinical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2408, doi. 10.1002/ajmg.a.37789

By:

Rosato, Simonetta;
Syx, Delfien;
Ivanovski, Ivan;
Pollazzon, Marzia;
Santodirocco, Daniela;
De Marco, Loredana;
Beltrami, Marina;
Callewaert, Bert;
Garavelli, Livia;
Malfait, Fransiska

Publication type:

Article

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2248, doi. 10.1002/ajmg.a.37801

By:

Maas, Saskia M.;
Vansenne, Fleur;
Kadouch, Daniel J. M.;
Ibrahim, Abdulla;
Bliek, Jet;
Hopman, Saskia;
Mannens, Marcel M.;
Merks, Johannes H. M.;
Maher, Eamonn R.;
Hennekam, Raoul C.

Publication type:

Article

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2421, doi. 10.1002/ajmg.a.37802

By:

Lionel, Anath C.;
Monfared, Nasim;
Scherer, Stephen W.;
Marshall, Christian R.;
Mercimek‐Mahmutoglu, Saadet

Publication type:

Article

A novel MED12 mutation: Evidence for a fourth phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2377, doi. 10.1002/ajmg.a.37805

By:

Prontera, Paolo;
Ottaviani, Valentina;
Rogaia, Daniela;
Isidori, Ilenia;
Mencarelli, Amedea;
Malerba, Natascia;
Cocciadiferro, Dario;
Rolph, Pfundt;
Stangoni, Gabriela;
Vulto‐van Silfhout, Anneke;
Merla, Giuseppe

Publication type:

Article

Prenatal diagnosis of Chudley-McCullough syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2426, doi. 10.1002/ajmg.a.37806

By:

Chapman, Teresa;
Perez, Francisco A.;
Ishak, Gisele E.;
Doherty, Dan

Publication type:

Article

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2389, doi. 10.1002/ajmg.a.37681

By:

Stellacci, Emilia;
Onesimo, Roberta;
Bruselles, Alessandro;
Pizzi, Simone;
Battaglia, Domenica;
Leoni, Chiara;
Zampino, Giuseppe;
Tartaglia, Marco

Publication type:

Article

Table of Contents, Volume 170A, Number 9, September 2016.

Published in:: 2016
Publication type:: Other

Publication schedule for 2016.

Published in:: 2016
Publication type:: Other

In this issue.

Published in:: 2016
Publication type:: Other

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2440, doi. 10.1002/ajmg.a.37822

By:

Szafranski, Przemyslaw;
Coban‐Akdemir, Zeynep H.;
Rupps, Rosemarie;
Grazioli, Serge;
Wensley, David;
Jhangiani, Shalini N.;
Popek, Edwina;
Lee, Anna F.;
Lupski, James R.;
Boerkoel, Cornelius F.;
Stankiewicz, Paweł

Publication type:

Article

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2445, doi. 10.1002/ajmg.a.37824

By:

Fontana, Paolo;
Tortora, Cristina;
Petillo, Roberta;
Falco, Mariateresa;
Miniero, Martina;
De Brasi, Davide;
Pisanti, Maria Antonietta

Publication type:

Article

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2483, doi. 10.1002/ajmg.a.37827

By:

Goto, Masahide;
Kagami, Masayo;
Nishimura, Gen;
Yamagata, Takanori

Publication type:

Article

Siblings with severe pyruvate kinase deficiency and a complex genotype.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2449, doi. 10.1002/ajmg.a.37828

By:

Christensen, Robert D.;
Yaish, Hassan M.;
Nussenzveig, Roberto H.;
Agarwal, Archana M.

Publication type:

Article

Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2453, doi. 10.1002/ajmg.a.37829

By:

Fukushima, Hiroyuki;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2436, doi. 10.1002/ajmg.a.37823

By:

Moosa, Shahida;
Fano, Virginia;
Obregon, Maria Gabriela;
Altmüller, Janine;
Thiele, Holger;
Nürnberg, Peter;
Nishimura, Gen;
Wollnik, Bernd

Publication type:

Article