Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 6

Results: 47

Cover Image, Volume 170A, Number 6, June 2016.

Published in:

2016

By:

Bayat, Allan;
Fijalkowski, Igor;
Andersen, Tobias;
Abdulmunem, Sura Azhar;
van den Ende, Jenneke;
Van Hul, Wim

Publication type:

Other

Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1455, doi. 10.1002/ajmg.a.37622

By:

Strowd, Roy E.;
Rodriguez, Fausto J.;
McLendon, Roger E.;
Vredenburgh, James J.;
Chance, Aaron B.;
Jallo, George;
Olivi, Alessandro;
Ahn, Edward S.;
Blakeley, Jaishri O.

Publication type:

Article

Website aims to accelerate gene discovery, diagnosis, treatment.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1388, doi. 10.1002/ajmg.a.37746
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1390, doi. 10.1002/ajmg.a.37747
Publication type:: Article

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1600, doi. 10.1002/ajmg.a.37620

By:

Pipitone, Angela;
Raval, Donna B.;
Duis, Jessica;
Vernon, Hilary;
Martin, Regina;
Hamosh, Ada;
Valle, David;
Gunay‐Aygun, Meral

Publication type:

Article

Table of Contents, Volume 170A, Number 6, June 2016.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1381, doi. 10.1002/ajmg.a.37315
Publication type:: Article

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1479, doi. 10.1002/ajmg.a.37626

By:

Bayat, Allan;
Fijalkowski, Igor;
Andersen, Tobias;
Abdulmunem, Sura Azhar;
van den Ende, Jenneke;
Van Hul, Wim

Publication type:

Article

Publication schedule for 2016.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1386, doi. 10.1002/ajmg.a.37316
Publication type:: Article

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1603, doi. 10.1002/ajmg.a.37624

By:

Sheffer, Ruth;
Douiev, Liza;
Edvardson, Simon;
Shaag, Avraham;
Tamimi, Khaled;
Soiferman, Devorah;
Meiner, Vardiella;
Saada, Ann

Publication type:

Article

Whole-exome sequencing strategy proposed as first-line test.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1387, doi. 10.1002/ajmg.a.37317
Publication type:: Article

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1471, doi. 10.1002/ajmg.a.37625

By:

Leoni, Chiara;
Gordon, Christopher T.;
Marca, Giacomo Della;
Giorgio, Valentina;
Onesimo, Roberta;
Perrino, Francesca;
Cianfoni, Alessandro;
Cerchiari, Antonella;
Amiel, Jeanne;
Zampino, Giuseppe

Publication type:

Article

Acceptance and commitment therapy in youth with neurofibromatosis type 1 (NF1) and chronic pain and their parents: A pilot study of feasibility and preliminary efficacy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1462, doi. 10.1002/ajmg.a.37623

By:

Martin, Staci;
Wolters, Pamela L.;
Toledo‐Tamula, Mary Anne;
Schmitt, Shawn Nelson;
Baldwin, Andrea;
Starosta, Amy;
Gillespie, Andrea;
Widemann, Brigitte

Publication type:

Article

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1642, doi. 10.1002/ajmg.a.37628

By:

Witters, Peter;
Régal, Luc;
Waterham, Hans R.;
De Meirleir, Linda;
Wanders, Ronald J. A.;
Morava, Eva

Publication type:

Article

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1532, doi. 10.1002/ajmg.a.37640

By:

Fernandes, Marilyse B. L.;
Maximino, Luciana P.;
Perosa, Gimol B.;
Abramides, Dagma V. M.;
Passos‐Bueno, Maria Rita;
Yacubian‐Fernandes, Adriano

Publication type:

Article

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1647, doi. 10.1002/ajmg.a.37641

By:

Krajewska‐Walasek, Małgorzata;
Jurkiewicz, Dorota;
Piekutowska‐Abramczuk, Dorota;
Kucharczyk, Marzena;
Chrzanowska, Krystyna H.;
Jezela‐Stanek, Aleksandra;
Ciara, Elżbieta

Publication type:

Article

TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1635, doi. 10.1002/ajmg.a.37642

By:

Chacon‐Camacho, Oscar Francisco;
Fuerte‐Flores, Bertha Irene;
Zenteno, Juan Carlos

Publication type:

Article

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1622, doi. 10.1002/ajmg.a.37643

By:

Phadke, Shubha R.;
Kar, Anjana;
Bhowmik, Aneek Das;
Dalal, Ashwin

Publication type:

Article

Do patients with tuberous sclerosis complex have an increased risk for malignancies?

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1538, doi. 10.1002/ajmg.a.37644

By:

Peron, Angela;
Vignoli, Aglaia;
La Briola, Francesca;
Volpi, Angela;
Montanari, Emanuele;
Morenghi, Emanuela;
Ghelma, Filippo;
Bulfamante, Gaetano;
Cefalo, Graziella;
Canevini, Maria Paola

Publication type:

Article

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1626, doi. 10.1002/ajmg.a.37645

By:

Mattioli, Francesca;
Piton, Amelie;
Gérard, Bénédicte;
Superti‐Furga, Andrea;
Mandel, Jean‐Louis;
Unger, Sheila

Publication type:

Article

Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1630, doi. 10.1002/ajmg.a.37648

By:

Sullivan, Kathleen E.;
Burrows, Evanette;
McDonald McGinn, Donna M.

Publication type:

Article

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1433, doi. 10.1002/ajmg.a.37596

By:

Hiippala, Anita;
Vasilescu, Catalina;
Tallila, Jonna;
Alastalo, Tero‐Pekka;
Paetau, Anders;
Tyni, Tiina;
Suomalainen, Anu;
Euro, Liliya;
Ojala, Tiina

Publication type:

Article

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598

By:

Stokman, Marijn F.;
Oud, Machteld M.;
van Binsbergen, Ellen;
Slaats, Gisela G.;
Nicolaou, Nayia;
Renkema, Kirsten Y.;
Nijman, Isaac J.;
Roepman, Ronald;
Giles, Rachel H.;
Arts, Heleen H.;
Knoers, Nine V. A. M.;
van Haelst, Mieke M.

Publication type:

Article

Second Pallister-Opitz Genetics Symposium, Helena, Montana, July 2015.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1405, doi. 10.1002/ajmg.a.37599

By:

Elias, Abdallah F.;
Opitz, John M.

Publication type:

Article

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1580, doi. 10.1002/ajmg.a.37611

By:

Tan, Christopher A.;
Rabideau, Marina;
Blevins, Amy;
Westbrook, Marjorie Jody;
Ekstein, Tali;
Nykamp, Keith;
Deucher, Anne;
Harper, Amy;
Demmer, Laurie

Publication type:

Article

Lack of mutation-histopathology correlation in a patient with Proteus syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1422, doi. 10.1002/ajmg.a.37612

By:

Doucet, Meggie E.;
Bloomhardt, Hadley M.;
Moroz, Krzysztof;
Lindhurst, Marjorie J.;
Biesecker, Leslie G.

Publication type:

Article

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1450, doi. 10.1002/ajmg.a.37613

By:

Macmurdo, Colleen F.;
Wooderchak‐Donahue, Whitney;
Bayrak‐Toydemir, Pinar;
Le, Jenny;
Wallenstein, Matthew B.;
Milla, Carlos;
Teng, Joyce M. C.;
Bernstein, Jonathan A.;
Stevenson, David A.

Publication type:

Article

Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1485, doi. 10.1002/ajmg.a.37614

By:

Bengoa‐Alonso, Amaya;
Artigas‐López, Mercè;
Moreno‐Igoa, María;
Cattalli, Claudio;
Hernández‐Charro, Blanca;
Ramos‐Arroyo, Maria Antonia

Publication type:

Article

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1585, doi. 10.1002/ajmg.a.37617

By:

Thiffault, Isabelle;
Farrow, Emily;
Smith, Laurie;
Lowry, Jennifer;
Zellmer, Lee;
Black, Benjamin;
Abdelmoity, Ahmed;
Miller, Neil;
Soden, Sarah;
Saunders, Carol

Publication type:

Article

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1613, doi. 10.1002/ajmg.a.37634

By:

Yang, Pu;
Tan, Hu;
Xia, Yan;
Yu, Qian;
Wei, Xianda;
Guo, Ruolan;
Peng, Ying;
Chen, Chen;
Li, Haoxian;
Mei, Libin;
Huang, Yanru;
Liang, Desheng;
Wu, Lingqian

Publication type:

Article

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1595, doi. 10.1002/ajmg.a.37619

By:

Montané, Lucia Sentchordi;
Marín, Oliver R.;
Rivera‐Pedroza, Carlos I.;
Vallespín, Elena;
del Pozo, Ángela;
Heath, Karen E.

Publication type:

Article

Oblique facial clefts in Johanson-Blizzard syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1495, doi. 10.1002/ajmg.a.37630

By:

Corona‐Rivera, Jorge Román;
Zapata‐Aldana, Eugenio;
Bobadilla‐Morales, Lucina;
Corona‐Rivera, Alfredo;
Peña‐Padilla, Christian;
Solis‐Hernández, Elizabeth;
Guzmán, Celina;
Richmond, Erick;
Zahl, Christian;
Zenker, Martin;
Sukalo, Maja

Publication type:

Article

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1608, doi. 10.1002/ajmg.a.37631

By:

Hague, Jennifer;
Delon, Isabelle;
Brugger, Kim;
Martin, Howard;
Abbs, Stephen;
Park, Soo‐Mi

Publication type:

Article

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1502, doi. 10.1002/ajmg.a.37632

By:

Evers, Christina;
Kaufmann, Lilian;
Seitz, Angelika;
Paramasivam, Nagarajan;
Granzow, Martin;
Karch, Stephanie;
Fischer, Christine;
Hinderhofer, Katrin;
Gdynia, Georg;
Elsässer, Michael;
Pinkert, Stefan;
Schlesner, Matthias;
Bartram, Claus R.;
Moog, Ute

Publication type:

Article

Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1590, doi. 10.1002/ajmg.a.37618

By:

Yang, Yong‐jia;
Yao, Xu;
Guo, Jihong;
Zhao, Liu;
Tu, Ming;
Qiou, Jun;
Zhao, Rui;
Luo, Yongqi;
Zhu, Yi‐min

Publication type:

Article

James L. German, a pioneer in early human genetic research turned 90.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1564, doi. 10.1002/ajmg.a.37635

By:

Passarge, Eberhard

Publication type:

Article

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1510, doi. 10.1002/ajmg.a.37636

By:

Vyas, Bijal;
Puri, Ratna D.;
Namboodiri, Narayanan;
Nair, Mohan;
Sharma, Deepak;
Movva, Sireesha;
Saxena, Renu;
Bohora, Shomu;
Aggarwal, Neeraj;
Vora, Amit;
Kumar, Jatinder;
Singh, Tarandeep;
Verma, Ishwar C.

Publication type:

Article

Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1520, doi. 10.1002/ajmg.a.37637

By:

Alter, Blanche P.;
Giri, Neelam

Publication type:

Article

Nutritional aspects of Noonan syndrome and Noonan-related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1525, doi. 10.1002/ajmg.a.37639

By:

da Silva, Fernanda Marchetto;
Jorge, Alexander Augusto;
Malaquias, Alexandra;
da Costa Pereira, Alexandre;
Yamamoto, Guilherme Lopes;
Kim, Chong Ae;
Bertola, Debora

Publication type:

Article

Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1545, doi. 10.1002/ajmg.a.37650

By:

Spiridigliozzi, Gail A.;
Hart, Sarah J.;
Heller, James H.;
Schneider, Heather E.;
Baker, Jane Ann;
Weadon, Cathleen;
Capone, George T.;
Kishnani, Priya S.

Publication type:

Article

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1391, doi. 10.1002/ajmg.a.37652

By:

Kayserili, Hülya;
Altunoglu, Umut;
Yesil, Gozde;
Rosti, Rasim Özgür

Publication type:

Article

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1570, doi. 10.1002/ajmg.a.37601

By:

Maridet, Claire;
Sole, Guilhem;
Morice‐Picard, Fanny;
Taieb, Alain

Publication type:

Article

Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1439, doi. 10.1002/ajmg.a.37603

By:

Cotter, Megan;
Archibald, Alison D.;
McClaren, Belinda J.;
Burgess, Trent;
Francis, David;
Hills, Louise;
Martyn, Melissa;
Oertel, Ralph;
Slater, Howard;
Cohen, Jonathan;
Metcalfe, Sylvia A.

Publication type:

Article

Further defining the phenotypic spectrum of B4GALT7 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1556, doi. 10.1002/ajmg.a.37604

By:

Salter, Claire G.;
Davies, Justin H.;
Moon, Rebecca J.;
Fairhurst, Joanna;
Bunyan, David;
Foulds, Nicola

Publication type:

Article

Man of Science, Man of God -Gregor Mendel-Discovering the Gene-For his 150th anniversary.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1651, doi. 10.1002/ajmg.a.37605

By:

Opitz, John M.

Publication type:

Article

A novel EDARADD 5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1639, doi. 10.1002/ajmg.a.37607

By:

Chaudhary, Ajay K.;
Girisha, Katta M.;
Bashyam, Murali D.

Publication type:

Article

Congenital limb deficiency classification and nomenclature: The need for a consensus.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1400, doi. 10.1002/ajmg.a.37608

By:

Lowry, Robert Brian;
Bedard, Tanya

Publication type:

Article

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1573, doi. 10.1002/ajmg.a.37609

By:

Lindy, Amanda S.;
Basehore, Monica J.;
Munisha, Mumingjiang;
Williams, Aimee Leanne;
Friez, Michael J.;
Writzl, Karin;
Willems, Patrick;
Dougan, Scott T.

Publication type:

Article