Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 7

Results: 49

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1713, doi. 10.1002/ajmg.a.36552

By:

Keppler‐Noreuil, Kim M.;
Sapp, Julie C.;
Lindhurst, Marjorie J.;
Parker, Victoria E.R.;
Blumhorst, Cathy;
Darling, Thomas;
Tosi, Laura L.;
Huson, Susan M.;
Whitehouse, Richard W.;
Jakkula, Eveliina;
Grant, Ian;
Balasubramanian, Meena;
Chandler, Kate E.;
Fraser, Jamie L.;
Gucev, Zoran;
Crow, Yanick J.;
Brennan, Leslie Manace;
Clark, Robin;
Sellars, Elizabeth A.;
Pena, Loren DM

Publication type:

Article

Evaluation of participant recruitment methods to a rare disease online registry.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1686, doi. 10.1002/ajmg.a.36530

By:

Johnson, Kimberly J.;
Mueller, Nancy L.;
Williams, Katherine;
Gutmann, David H.

Publication type:

Article

Mutations in NGLY1 gene linked with new genetic disorder.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. viii, doi. 10.1002/ajmg.a.36644
Publication type:: Article

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1627, doi. 10.1002/ajmg.a.36501

By:

Oud, Machteld M.;
van Bon, Bregje W.;
Bongers, Ernie M. H. F.;
Hoischen, Alexander;
Marcelis, Carlo L.;
de Leeuw, Nicole;
Mol, Suzanne J. J.;
Mortier, Geert;
Knoers, Nine V. A. M.;
Brunner, Han G.;
Roepman, Ronald;
Arts, Heleen H.

Publication type:

Article

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1659, doi. 10.1002/ajmg.a.36512

By:

Guilherme, Roberta Santos;
Soares, Karina Cunha;
Simioni, Milena;
Vieira, Tarsis Paiva;
Gil‐da‐Silva‐Lopes, Vera Lúcia;
Kim, Chong Ae;
Brunoni, Décio;
Spinner, Nancy Bettina;
Conlin, Laura Kathleen;
Christofolini, Denise Maria;
Kulikowski, Leslie Domenici;
Steiner, Carlos Eduardo;
Melaragno, Maria Isabel

Publication type:

Article

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1622, doi. 10.1002/ajmg.a.36498

By:

Johansson, Stefan;
Berland, Siren;
Gradek, Gyri Aasland;
Bongers, Ernie;
de Leeuw, Nicole;
Pfundt, Rolph;
Fannemel, Madeleine;
Rødningen, Olaug;
Brendehaug, Atle;
Haukanes, Bjørn Ivar;
Hovland, Randi;
Helland, Gunnar;
Houge, Gunnar

Publication type:

Article

Table of Contents, Volume 164A, Number 7, July 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. fm i, doi. 10.1002/ajmg.a.36666
Publication type:: Article

Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1867, doi. 10.1002/ajmg.a.36497

By:

Temtamy, Samia Ali

Publication type:

Article

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1789, doi. 10.1002/ajmg.a.36516

By:

Bloch, Mercedes;
Leonard, Anissa;
Diplas, Andreas A.;
Pepermans, Xavier;
Emanuel, Beverly S.;
Rocca, Maria Santa;
Revencu, Nicole;
Sznajer, Yves

Publication type:

Article

Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1871, doi. 10.1002/ajmg.a.36527

By:

Piccione, Maria;
Fragapane, Tiziana;
Antona, Vincenzo;
Giachino, Daniela;
Cupido, Francesco;
Corsello, Giovanni

Publication type:

Article

Academia, advocacy, and industry: A collaborative method for clinical research advancement.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1619, doi. 10.1002/ajmg.a.36509

By:

Vanzo, Rena J.;
Lortz, Amanda;
Calhoun, Amy R. U. L.;
Carey, John C.

Publication type:

Article

Screening children with neurofibromatosis type 1 for autism spectrum disorder.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1706, doi. 10.1002/ajmg.a.36549

By:

Tinker, Jade;
Carbone, Paul S.;
Viskochil, David;
Mathiesen, Amber;
Ma, Khe‐Ni;
Stevenson, David A.

Publication type:

Article

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1850, doi. 10.1002/ajmg.a.36505

By:

Gordon, Christopher T.;
Cunniff, Christopher M.;
Green, Glenn E.;
Zechi‐Ceide, Roseli Maria;
Johnson, Jason M.;
Henderson, Alex;
Petit, Florence;
Kokitsu‐Nakata, Nancy Mizue;
Guion‐Almeida, Maria Leine;
Munnich, Arnold;
Cunningham, Michael L.;
Lyonnet, Stanislas;
Amiel, Jeanne

Publication type:

Article

New testing guidelines for hearing loss support next-generation sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. vii, doi. 10.1002/ajmg.a.36643

By:

Levenson, Deborah

Publication type:

Article

Axenfeld-Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1695, doi. 10.1002/ajmg.a.36540

By:

Titheradge, Hannah;
Togneri, Fiona;
McMullan, Dominic;
Brueton, Louise;
Lim, Derek;
Williams, Denise

Publication type:

Article

Epidemiology of fragile X syndrome: A systematic review and meta-analysis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1648, doi. 10.1002/ajmg.a.36511

By:

Hunter, Jessica;
Rivero‐Arias, Oliver;
Angelov, Angel;
Kim, Edward;
Fotheringham, Iain;
Leal, Jose

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 164A, Number 7, July 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. C1, doi. 10.1002/ajmg.a.36665
Publication type:: Article

Coffin-Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1808, doi. 10.1002/ajmg.a.36533

By:

Tzeng, Michael;
du Souich, Christèle;
Cheung, Helen Wing‐Hong;
Boerkoel, Cornelius F.

Publication type:

Article

Homozygous N540K hypochondroplasia-First report: Radiological and clinical features.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1784, doi. 10.1002/ajmg.a.36504

By:

De Rosa, M. Laura Garcia;
Fano, Virginia;
Araoz, H. Verónica;
Chertkoff, Lilien;
Obregon, M. Gabriela

Publication type:

Article

Novel SMAD4 mutation causing Myhre syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1835, doi. 10.1002/ajmg.a.36544

By:

Caputo, Viviana;
Bocchinfuso, Gianfranco;
Castori, Marco;
Traversa, Alice;
Pizzuti, Antonio;
Stella, Lorenzo;
Grammatico, Paola;
Tartaglia, Marco

Publication type:

Article

Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1857, doi. 10.1002/ajmg.a.36515

By:

Vengoechea, Jaime;
Carpenter, Lori;
Zárate, Yuri A.

Publication type:

Article

Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1841, doi. 10.1002/ajmg.a.36555

By:

McPherson, Elizabeth;
Zaleski, Christina;
Ye, Zhan;
Lin, Simon

Publication type:

Article

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1802, doi. 10.1002/ajmg.a.36526

By:

Ferreira, Carlos;
Poretti, Andrea;
Cohen, Julie;
Hamosh, Ada;
Naidu, Sakkubai

Publication type:

Article

FKBP14-related Ehlers-Danlos syndrome: Expansion of the phenotype to include vascular complications.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1750, doi. 10.1002/ajmg.a.36492

By:

Murray, Mitzi L.;
Yang, Margaret;
Fauth, Christine;
Byers, Peter H.

Publication type:

Article

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1642, doi. 10.1002/ajmg.a.36508

By:

Barboza‐Cerda, María C.;
Wong, Lee‐Jun;
Martínez‐de‐Villarreal, Laura E.;
Zhang, Victor Wei;
Déctor, Miguel A.

Publication type:

Article

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1846, doi. 10.1002/ajmg.a.36342

By:

Barnett, Christopher P.;
Todd, Emily J.;
Ong, Royston;
Davis, Mark R.;
Atkinson, Vanessa;
Allcock, Richard;
Laing, Nigel;
Ravenscroft, Gianina

Publication type:

Article

Formation of a familial ring chromosome 18 investigated by SNP-array analysis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1854, doi. 10.1002/ajmg.a.36496

By:

Balci, Sevim;
Zschocke, Johannes;
Kotzot, Dieter;
Ergün, Mehmet Ali;
Spreiz, Ana

Publication type:

Article

Duplication of AKT3 is associated with macrocephaly and speech delay.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1868, doi. 10.1002/ajmg.a.36521

By:

Chung, Brian K.;
Eydoux, Patrice;
∨an Karnebeek, Clara D.;
Gibson, William T.

Publication type:

Article

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1863, doi. 10.1002/ajmg.a.36532

By:

Allen, Nicholas M.;
Conroy, Judith;
Shahwan, Amre;
Ennis, Sean;
Lynch, Bryan;
Lynch, Sally A.;
King, Mary D.

Publication type:

Article

Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1765, doi. 10.1002/ajmg.a.36503

By:

Salas‐Labadía, Consuelo;
Cervantes‐Barragán, David E.;
Cruz‐Alcívar, Roberto;
Daber, Robert D.;
Conlin, Laura K.;
Leonard, Laura D.;
Spinner, Nancy B.;
Durán‐McKinster, Carola;
Dávila‐Ortíz de Montellano, David J.;
Del Castillo‐Ruiz, Victoria;
Pérez‐Vera, Patricia

Publication type:

Article

The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1702, doi. 10.1002/ajmg.a.36543

By:

Vilchis, Zacil;
Najera, Nayelli;
Pérez‐Duran, Javier;
Najera, Zenyesen;
Gonzalez, Lourdes;
del Refugio Rivera, Maria;
Queipo, Gloria

Publication type:

Article

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1635, doi. 10.1002/ajmg.a.36502

By:

Grigelioniene, Giedre;
Geiberger, Stefan;
Horemuzova, Eva;
Moström, Eva;
Jäntti, Nina;
Neumeyer, Lo;
Åström, Eva;
Nordenskjöld, Magnus;
Nordgren, Ann;
Mäkitie, Outi

Publication type:

Article

Barraquer-Simons syndrome: A rare clinical entity.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1756, doi. 10.1002/ajmg.a.36491

By:

Simsek‐Kiper, Pelin Ozlem;
Roach, Emir;
Utine, Gulen Eda;
Boduroglu, Koray

Publication type:

Article

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1860, doi. 10.1002/ajmg.a.36529

By:

Lehman, Anna M.;
Cowan, Jason R.;
McFadden, Deborah E.;
Patel, Millan S.

Publication type:

Article

Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1770, doi. 10.1002/ajmg.a.36495

By:

Tuğ, Esra;
Yirmibeş Karaoğuz, Meral;
Kayhan, Gülsüm;
Ergün, Mehmet Ali;
Perçin, Ferda E.

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. x, doi. 10.1002/ajmg.a.36645
Publication type:: Article

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1677, doi. 10.1002/ajmg.a.36514

By:

Tüysüz, Beyhan;
Bilguvar, Kaya;
Koçer, Naci;
Yalçınkaya, Cengiz;
Çağlayan, Okay;
Gül, Ece;
Şahin, Sezgin;
Çomu, Sinan;
Günel, Murat

Publication type:

Article

Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1826, doi. 10.1002/ajmg.a.36542

By:

Wheeler, Patricia G.;
Huang, Dongli;
Dai, Zunyan

Publication type:

Article

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1666, doi. 10.1002/ajmg.a.36513

By:

Disciglio, Vittoria;
Rizzo, Caterina Lo;
Mencarelli, Maria Antonietta;
Mucciolo, Mafalda;
Marozza, Annabella;
Di Marco, Chiara;
Massarelli, Antonio;
Canocchi, Valentina;
Baldassarri, Margherita;
Ndoni, Enea;
Frullanti, Elisa;
Amabile, Sonia;
Anderlid, Britt Marie;
Metcalfe, Kay;
Le Caignec, Cédric;
David, Albert;
Fryer, Alan;
Boute, Odile;
Joris, Andrieux;
Greco, Donatella

Publication type:

Article

A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle-Am J Med Genet Part A 161A: 3121-3125.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1872, doi. 10.1002/ajmg.a.36553

By:

Villarreal, Diana D.;
Villarreal, Humberto;
Paez, Ana Maria;
Peppas, Dennis;
Lynch, Jane;
Roeder, Elizabeth;
Powers, George C.

Publication type:

Article

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1795, doi. 10.1002/ajmg.a.36524

By:

Andersen, Erica F.;
Baldwin, Erin E.;
Ellingwood, Sara;
Smith, Rosemarie;
Lamb, Allen N.

Publication type:

Article

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1744, doi. 10.1002/ajmg.a.36450

By:

Tunovic, Sanjin;
Barkovich, James;
Sherr, Elliott H.;
Slavotinek, Anne M.

Publication type:

Article

Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1815, doi. 10.1002/ajmg.a.36535

By:

Prasun, Pankaj;
Hankerd, Michael;
Kristofice, Melissa;
Scussel, Lindsey;
Sivaswamy, Lalitha;
Ebrahim, Salah

Publication type:

Article

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1777, doi. 10.1002/ajmg.a.36506

By:

Drury, Suzanne;
Boustred, Christopher;
Tekman, Mehmet;
Stanescu, Horia;
Kleta, Robert;
Lench, Nicholas;
Chitty, Lyn S.;
Scott, Richard H.

Publication type:

Article

Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: Potential diagnostic clues?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1830, doi. 10.1002/ajmg.a.36546

By:

Yoshida, Takeshi;
Awaya, Tomonari;
Shibata, Minoru;
Kato, Takeo;
Numabe, Hironao;
Kobayashi, Junya;
Komatsu, Kenshi;
Heike, Toshio

Publication type:

Article

Correspondence regarding: PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1870, doi. 10.1002/ajmg.a.36528

By:

Stanich, Peter P.;
Meyer, Marty M.;
Pilarski, Robert

Publication type:

Article

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1761, doi. 10.1002/ajmg.a.36494

By:

Sardina, Jennifer M.;
Walters, Allyson R.;
Singh, Kathryn E.;
Owen, Renius X.;
Kimonis, Virginia E.

Publication type:

Article

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1821, doi. 10.1002/ajmg.a.36539

By:

Isidor, Bertrand;
Lefebvre, Tiphaine;
Le Vaillant, Claudine;
Caillaud, Gaëlle;
Faivre, Laurence;
Jossic, Frédéric;
Joubert, Madeleine;
Winer, Norbert;
Le Caignec, Cédric;
Borck, Guntram;
Pelet, Anna;
Amiel, Jeanne;
Toutain, Annick;
Ronce, Nathalie;
Raynaud, Martine;
Verloes, Alain;
David, Albert

Publication type:

Article

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1734, doi. 10.1002/ajmg.a.36391

By:

Pavone, Piero;
Briuglia, Silvana;
Falsaperla, Raffaele;
Warm, Amiel;
Pavone, Vito;
Bernardini, Laura;
Novelli, Antonio;
Praticò, Andrea D.;
Salpietro, Vincenzo;
Ruggieri, Martino

Publication type:

Article