Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 3

Results: 51

Noninvasive prenatal testing spots duchenne muscular dystrophy.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 557, doi. 10.1002/ajmg.a.37591
Publication type:: Article

Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 792, doi. 10.1002/ajmg.a.37470

By:

Thümmler, Susanne;
Giuliano, Fabienne;
Karmous‐Benailly, Houda;
Richelme, Christian;
Fernandez, Arnaud;
De Georges, Christine;
Askenazy, Florence

Publication type:

Article

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 559, doi. 10.1002/ajmg.a.37471

By:

Gripp, Karen W.;
Robbins, Katherine M.;
Sheffield, Brandon S.;
Lee, Anna F.;
Patel, Millan S.;
Yip, Stephen;
Doyle, Daniel;
Stabley, Deborah;
Sol‐Church, Katia

Publication type:

Article

5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 688, doi. 10.1002/ajmg.a.37472

By:

Ilari, Rita;
Agosta, Guillermo;
Bacino, Carlos

Publication type:

Article

A new case of bent bone dysplasia-FGFR2 type and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 785, doi. 10.1002/ajmg.a.37473

By:

Stichelbout, Morgane;
Dieux‐Coeslier, Anne;
Clouqueur, Elodie;
Collet, Corinne;
Petit, Florence

Publication type:

Article

Hepatoblastoma in a male with MECP2 duplication syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 790, doi. 10.1002/ajmg.a.37474

By:

Trobaugh‐Lotrario, Angela;
Martin, Judith;
López‐Terrada, Dolores

Publication type:

Article

Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 813, doi. 10.1002/ajmg.a.37475

By:

Heald, Brandie;
Rigelsky, Christina;
Moran, Rocio;
LaGuardia, Lisa;
O'Malley, Margaret;
Burke, Carol A.;
Zahka, Kenneth

Publication type:

Article

Clinical delineation of the PACS1-related syndrome-Report on 19 patients.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 670, doi. 10.1002/ajmg.a.37476

By:

Schuurs‐Hoeijmakers, Janneke H. M.;
Landsverk, Megan L.;
Foulds, Nicola;
Kukolich, Mary K.;
Gavrilova, Ralitza H.;
Greville‐Heygate, Stephanie;
Hanson‐Kahn, Andrea;
Bernstein, Jonathan A.;
Glass, Jennifer;
Chitayat, David;
Burrow, Thomas A.;
Husami, Ammar;
Collins, Kathleen;
Wusik, Katie;
van der Aa, Nathalie;
Kooy, Frank;
Brown, Kate Tatton;
Gadzicki, Dorothea;
Kini, Usha;
Alvarez, Sara

Publication type:

Article

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 574, doi. 10.1002/ajmg.a.37477

By:

Leo, Michael C.;
McMullen, Carmit;
Wilfond, Benjamin S.;
Lynch, Frances L.;
Reiss, Jacob A.;
Gilmore, Marian J.;
Himes, Patricia;
Kauffman, Tia L.;
Davis, James V.;
Jarvik, Gail P.;
Berg, Jonathan S.;
Harding, Cary;
Kennedy, Kathleen A.;
Simpson, Dana Kostiner;
Quigley, Denise I.;
Richards, C. Sue;
Rope, Alan F.;
Goddard, Katrina A. B.

Publication type:

Article

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 717, doi. 10.1002/ajmg.a.37478

By:

Wallis, Mathew;
Tsurusaki, Yoshinori;
Burgess, Trent;
Borzi, Peter;
Matsumoto, Naomichi;
Miyake, Noriko;
True, Deanna;
Patel, Chirag

Publication type:

Article

KIAA2022 nonsense mutation in a symptomatic female.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 703, doi. 10.1002/ajmg.a.37479

By:

Farach, Laura S.;
Northrup, Hope

Publication type:

Article

Table of Contents, Volume 170A, Number 3, March 2016.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 549, doi. 10.1002/ajmg.a.37306
Publication type:: Article

Publication schedule for 2016.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 554, doi. 10.1002/ajmg.a.37307
Publication type:: Article

Debate surrounds state laws for down syndrome fact sheets.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 555, doi. 10.1002/ajmg.a.37308
Publication type:: Article

Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 734, doi. 10.1002/ajmg.a.37490

By:

Thomas‐Teinturier, Cecile;
Pereda, Arrate;
Garin, Intza;
Diez‐Lopez, Ignacio;
Linglart, Agnès;
Silve, Caroline;
de Nanclares, Guiomar Pérez

Publication type:

Article

Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 743, doi. 10.1002/ajmg.a.37492

By:

Carrera, Ignacio Arroyo;
de Zaldívar, María Solo;
Martín, Rebeca;
Begemann, Matthias;
Soellner, Lukas;
Eggermann, Thomas

Publication type:

Article

Rare copy number variants implicated in posterior urethral valves.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 622, doi. 10.1002/ajmg.a.37493

By:

Boghossian, Nansi S.;
Sicko, Robert J.;
Kay, Denise M.;
Rigler, Shannon L.;
Caggana, Michele;
Tsai, Michael Y.;
Yeung, Edwina H.;
Pankratz, Nathan;
Cole, Benjamin R.;
Druschel, Charlotte M.;
Romitti, Paul A.;
Browne, Marilyn L.;
Fan, Ruzong;
Liu, Aiyi;
Brody, Lawrence C.;
Mills, James L.

Publication type:

Article

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 766, doi. 10.1002/ajmg.a.37494

By:

Fontes, Marshall I. B.;
Santos, Ana P.;
Molck, Miriam C.;
Simioni, Milena;
Nascimento, Diogo L. L.;
Andrade, Ana K. M.;
Rosenberg, Carla;
Krepischi, Ana C. V.;
Appenzeller, Simone;
Monlleó, Isabella L.;
Gil‐da‐Silva‐Lopes, Vera Lúcia

Publication type:

Article

Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 804, doi. 10.1002/ajmg.a.37497

By:

Hamilton, Mark J.;
Sarkar, Ajoy;
Dixit, Abhijit;
Marder, Elizabeth

Publication type:

Article

Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 801, doi. 10.1002/ajmg.a.37499

By:

Frans, Glynis;
Meyts, Isabelle;
Devriendt, Koen;
Liston, Adrian;
Vermeulen, François;
Bossuyt, Xavier

Publication type:

Article

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 583, doi. 10.1002/ajmg.a.37445

By:

Zhang, Bin;
Willing, Marcia;
Grange, Dorothy K.;
Shinawi, Marwan;
Manwaring, Linda;
Vineyard, Marisa;
Kulkarni, Shashikant;
Cottrell, Catherine E.

Publication type:

Article

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 676, doi. 10.1002/ajmg.a.37510

By:

Castori, Marco;
Servadei, Francesca;
Laino, Luigi;
Pascolini, Giulia;
Fabbri, Romano;
Cifani, Anna Elisabetta;
Sforzolini, Giovanna Scassellati;
Silvestri, Evelina;
Grammatico, Paola

Publication type:

Article

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 754, doi. 10.1002/ajmg.a.37511

By:

Jones, Gabriela E.;
Robertson, Lisa;
Maniyar, Amit;
Shammas, Christos;
Phelan, Marie M.;
Vasudevan, Pradeep C.;
Tanteles, George A.

Publication type:

Article

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 750, doi. 10.1002/ajmg.a.37512

By:

Rajagopalan, Ramakrishnan;
Grochowski, Christopher M.;
Gilbert, Melissa A.;
Falsey, Alexandra M.;
Coleman, Karlene;
Romero, Rene;
Loomes, Kathleen M.;
Piccoli, David A.;
Devoto, Marcella;
Spinner, Nancy B.

Publication type:

Article

Generating a taxonomy for genetic conditions relevant to reproductive planning.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 565, doi. 10.1002/ajmg.a.37513

By:

Korngiebel, Diane M.;
McMullen, Carmit K.;
Amendola, Laura M.;
Berg, Jonathan S.;
Davis, James V.;
Gilmore, Marian J.;
Harding, Cary O.;
Himes, Patricia;
Jarvik, Gail P.;
Kauffman, Tia L.;
Kennedy, Kathleen A.;
Simpson, Dana Kostiner;
Leo, Michael C.;
Lynch, Frances L.;
Quigley, Denise I.;
Reiss, Jacob A.;
Richards, C. Sue;
Rope, Alan F.;
Schneider, Jennifer L.;
Goddard, Katrina A. B.

Publication type:

Article

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 760, doi. 10.1002/ajmg.a.37514

By:

Smith, Christopher;
Lamont, Ryan E.;
Wade, Andrew;
Bernier, Francois P.;
Parboosingh, Jillian S.;
Innes, A. Micheil

Publication type:

Article

Noninvasive prenatal testing can detect gene deletions, duplications.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 556, doi. 10.1002/ajmg.a.37581
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 558, doi. 10.1002/ajmg.a.37582
Publication type:: Article

American Journal of Medical Genetics Part A: Volume 170A, Number 3, March 2016.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. C1, doi. 10.1002/ajmg.a.37583
Publication type:: Article

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 615, doi. 10.1002/ajmg.a.37464

By:

Ibrahim, Daniel M.;
Tayebi, Naeimeh;
Knaus, Alexej;
Stiege, Asita C.;
Sahebzamani, Afsaneh;
Hecht, Jochen;
Mundlos, Stefan;
Spielmann, Malte

Publication type:

Article

Thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 811, doi. 10.1002/ajmg.a.37465

By:

Vorselaars, Veronique M. M.;
Velthuis, Sebastiaan;
Snijder, Repke J.;
Mager, Johannes J.;
Post, Martijn C.

Publication type:

Article

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 781, doi. 10.1002/ajmg.a.37466

By:

Preiksaitiene, Egle;
Benušienė, Eglė;
Matulevičienė, Aušra;
Grigalionienė, Kristina;
Utkus, Algirdas;
Kučinskas, Vaidutis

Publication type:

Article

Body proportions in children with Kabuki syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 610, doi. 10.1002/ajmg.a.37467

By:

Penders, Bas;
Schott, Nina;
Gerver, Willem‐Jan M.;
Stumpel, Constance T. R. M.

Publication type:

Article

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 634, doi. 10.1002/ajmg.a.37468

By:

Regier, Debra S.;
Kwon, Hyuk Joon;
Johnston, Jean;
Golas, Gretchen;
Yang, Sandra;
Wiggs, Edythe;
Latour, Yvonne;
Thomas, Sarah;
Portner, Cindy;
Adams, David;
Vezina, Gilbert;
Baker, Eva H.;
Tifft, Cynthia J.

Publication type:

Article

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 694, doi. 10.1002/ajmg.a.37469

By:

Posey, Jennifer E.;
Mohrbacher, Nikki;
Smith, Janice L.;
Patel, Ankita;
Potocki, Lorraine;
Breman, Amy M.

Publication type:

Article

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 645, doi. 10.1002/ajmg.a.37500

By:

Epstein, Amy;
Leonard, Helen;
Davis, Elise;
Williams, Katrina;
Reddihough, Dinah;
Murphy, Nada;
Whitehouse, Andrew;
Downs, Jenny

Publication type:

Article

Gershoni-Baruch syndrome: First report of a surviving child.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 707, doi. 10.1002/ajmg.a.37480

By:

Valfrè, Laura;
Baban, Anwar;
Digilio, Maria Cristina;
Bevilacqua, Francesca;
Bagolan, Pietro;
Conforti, Andrea

Publication type:

Article

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 795, doi. 10.1002/ajmg.a.37481

By:

Takagi, Masaki;
Shimizu, Mika;
Suzuki, Eri;
Shinohara, Hiroyuki;
Narumi, Satoshi;
Hasegawa, Tomonobu;
Nishimura, Gen;
Hasegawa, Yukihiro

Publication type:

Article

Depression and hyperactivity in two patients with craniofrontonasal syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 799, doi. 10.1002/ajmg.a.37482

By:

Fischer, Matthias;
Bänsch, Patricia‐Stefanie;
Unterecker, Stefan;
Romanos, Marcel;
Deckert, Jürgen

Publication type:

Article

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 712, doi. 10.1002/ajmg.a.37483

By:

Nimmo, Graeme A. M.;
Guerin, Andrea;
Badilla‐Porras, Ramses;
Stavropoulos, Dimitri J.;
Yoon, Grace;
Carter, Melissa T.

Publication type:

Article

Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 602, doi. 10.1002/ajmg.a.37419

By:

Deeb, Asma;
Habeb, Abdelhadi;
Kaplan, Walid;
Attia, Salima;
Hadi, Suha;
Osman, Amani;
Al‐Jubeh, Jamal;
Flanagan, Sarah;
DeFranco, Elisa;
Ellard, Sian

Publication type:

Article

Massive hemoptysis in Loeys-Dietz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 725, doi. 10.1002/ajmg.a.37487

By:

Bennett, Christopher L.;
Aziz, Hamza;
Sparks, Elizabeth;
Shah, Trushil;
Yoder, Mark;
MacCarrick, Gretchen;
Dietz, Harry C.

Publication type:

Article

Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 594, doi. 10.1002/ajmg.a.37488

By:

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

Publication type:

Article

Book review: Signs and symptoms of genetic conditions-A handbook.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 809, doi. 10.1002/ajmg.a.37489

By:

Reis, Cláudia

Publication type:

Article

BRAT1-related disease-identification of a patient without early lethality.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 699, doi. 10.1002/ajmg.a.37434

By:

Mundy, Sheraden A.;
Krock, Bryan L.;
Mao, Rong;
Shen, Joseph J.

Publication type:

Article

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 728, doi. 10.1002/ajmg.a.37484

By:

Yigit, Gökhan;
Wieczorek, Dagmar;
Bögershausen, Nina;
Beleggia, Filippo;
Möller‐Hartmann, Claudia;
Altmüller, Janine;
Thiele, Holger;
Nürnberg, Peter;
Wollnik, Bernd

Publication type:

Article

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 773, doi. 10.1002/ajmg.a.37501

By:

Wilson, Brian T.;
Lochan, Anneline;
Stark, Zornitza;
Sutton, Ruth E.

Publication type:

Article

Sleep disturbance in Mowat-Wilson syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 654, doi. 10.1002/ajmg.a.37502

By:

Evans, Elizabeth;
Mowat, David;
Wilson, Meredith;
Einfeld, Stewart

Publication type:

Article

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 661, doi. 10.1002/ajmg.a.37503

By:

Radio, Francesca Clementina;
Digilio, Maria Cristina;
Capolino, Rossella;
Dentici, Maria Lisa;
Unolt, Marta;
Alesi, Viola;
Novelli, Antonio;
Marino, Bruno;
Dallapiccola, Bruno

Publication type:

Article

Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 777, doi. 10.1002/ajmg.a.37504

By:

Motta, Serena;
Sala, Debora;
Sala, Alessandra;
Cazzaniga, Giovanni;
Giudici, Giovanni;
Villa, Nicoletta;
Biondi, Andrea;
Selicorni, Angelo

Publication type:

Article