Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 5

Results: 51

Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1330, doi. 10.1002/ajmg.a.37580
By:
- Gund, Christian;
- Powis, Zöe;
- Alcaraz, Wendy;
- Desai, Sonal;
- Baranano, Kristin
Publication type:
Article
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1333, doi. 10.1002/ajmg.a.37584
By:
- Karagianni, Paraskevi;
- Lambropoulos, Vassilios;
- Stergidou, Dorothea;
- Fryssira, Helena;
- Chatziioannidis, Ilias;
- Spyridakis, Ioannis
Publication type:
Article
ORPHAN-THE QUEST TO SAVE CHILDREN WITH RARE GENETIC DISORDERS.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1377, doi. 10.1002/ajmg.a.37585
By:
- Resta, Robert
Publication type:
Article
Clairvoyance.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1242, doi. 10.1002/ajmg.a.37586
By:
- Urquhart, Emily
Publication type:
Article
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1115, doi. 10.1002/ajmg.a.37587
By:
- Tooley, Madeleine;
- Lynch, Danielle;
- Bernier, Francois;
- Parboosingh, Jillian;
- Bhoj, Elizabeth;
- Zackai, Elaine;
- Calder, Alistair;
- Itasaki, Nobue;
- Wakeling, Emma;
- Scott, Richard;
- Lees, Melissa;
- Clayton‐Smith, Jill;
- Blyth, Moira;
- Morton, Jenny;
- Shears, Debbie;
- Kini, Usha;
- Homfray, Tessa;
- Clarke, Angus;
- Barnicoat, Angela;
- Wallis, Colin
Publication type:
Article
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1339, doi. 10.1002/ajmg.a.37588
By:
- Okamoto, Nobuhiko;
- Toribe, Yasuhisa;
- Shimojima, Keiko;
- Yamamoto, Toshiyuki
Publication type:
Article
Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1343, doi. 10.1002/ajmg.a.37589
By:
- Huenerberg, Katherine;
- Hudspeth, Michelle;
- Bergmann, Shayla;
- Pai, Shashidhar;
- Singh, Balvir;
- Duong, Angie
Publication type:
Article
Recurrence of stillbirth and second trimester pregnancy loss.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1174, doi. 10.1002/ajmg.a.37606
By:
- McPherson, Elizabeth
Publication type:
Article
Novel copy number variants and major limb reduction malformation: Report of three cases.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1245, doi. 10.1002/ajmg.a.37550
By:
- Shamseldin, Hanan E.;
- Anazi, Shams;
- Wakil, Salma M.;
- Faqeih, Eissa;
- El Khashab, Heba Y.;
- Salih, Mustafa A.;
- Al‐Qattan, Mohammad M.;
- Hashem, Mais;
- Alsedairy, Haifa;
- Alkuraya, Fowzan S.
Publication type:
Article
Postnatal outcomes of prenatally diagnosed 45,X/46,XX.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1196, doi. 10.1002/ajmg.a.37551
By:
- Tokita, Mari J.;
- Sybert, Virginia P.
Publication type:
Article
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1251, doi. 10.1002/ajmg.a.37552
By:
- Cabrera, Sergio;
- Morel, Chantal;
- Tartaglia, Maria Carmela
Publication type:
Article
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1257, doi. 10.1002/ajmg.a.37553
By:
- Ronzoni, Luisa;
- Tagliaferri, Francesco;
- Tucci, Arianna;
- Baccarin, Marco;
- Esposito, Susanna;
- Milani, Donatella
Publication type:
Article
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1370, doi. 10.1002/ajmg.a.37557
By:
- Hasegawa, Kosei;
- Fukuhara, Rie;
- Moriwake, Tadashi;
- Tanaka, Hiroyuki;
- Higuchi, Yousuke;
- Yamashita, Miho;
- Tsukahara, Hirokazu
Publication type:
Article
A female newborn having mosaicism with near-tetraploidy and trisomy 18.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1262, doi. 10.1002/ajmg.a.37558
By:
- Wada, Yuka;
- Kakiuchi, Satsuki;
- Mizuguchi, Koichi;
- Nakamura, Tomoo;
- Ito, Yushi;
- Sago, Haruhiko;
- Kosaki, Rika
Publication type:
Article
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1268, doi. 10.1002/ajmg.a.37559
By:
- Fernández, Raquel M.;
- Sánchez, Javier;
- García‐Díaz, Lutgardo;
- Peláez‐Nora, Yolanda;
- González‐Meneses, Antonio;
- Antiñolo, Guillermo;
- Borrego, Salud
Publication type:
Article
Table of Contents, Volume 170A, Number 5, May 2016.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1105, doi. 10.1002/ajmg.a.37312
Publication type:
Article
Publication schedule for 2016.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1110, doi. 10.1002/ajmg.a.37313
Publication type:
Article
Genetic discrimination lawsuit raises broader concerns about testing, privacy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1111, doi. 10.1002/ajmg.a.37314
Publication type:
Article
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1295, doi. 10.1002/ajmg.a.37570
By:
- Moosa, Shahida;
- Obregon, Maria Gabriela;
- Altmüller, Janine;
- Thiele, Holger;
- Nürnberg, Peter;
- Fano, Virginia;
- Wollnik, Bernd
Publication type:
Article
Use of metaphors about exome and whole genome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1127, doi. 10.1002/ajmg.a.37571
By:
- Nelson, Sarah C.;
- Crouch, Julia M.;
- Bamshad, Michael J.;
- Tabor, Holly K.;
- Yu, Joon‐Ho
Publication type:
Article
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1302, doi. 10.1002/ajmg.a.37572
By:
- Brasseur, Benjamin;
- Martin, Cindy M.;
- Cayci, Zuzan;
- Burmeister, Lynn;
- Schimmenti, Lisa A.
Publication type:
Article
Enhancing genomic laboratory reports: A qualitative analysis of provider review.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1134, doi. 10.1002/ajmg.a.37573
By:
- Williams, Janet L.;
- Rahm, Alanna Kulchak;
- Stuckey, Heather;
- Green, Jamie;
- Feldman, Lynn;
- Zallen, Doris T.;
- Bonhag, Michele;
- Segal, Michael M.;
- Fan, Audrey L.;
- Williams, Marc S.
Publication type:
Article
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1308, doi. 10.1002/ajmg.a.37574
By:
- Ferreira, Carlos R.;
- Ziegler, Shira G.;
- Gupta, Ashutosh;
- Groden, Catherine;
- Hsu, Kevin S.;
- Gahl, William A.
Publication type:
Article
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1312, doi. 10.1002/ajmg.a.37575
By:
- Samango‐Sprouse, Carole;
- Lawson, Patrick;
- Sprouse, Courtney;
- Stapleton, Emily;
- Sadeghin, Teresa;
- Gropman, Andrea
Publication type:
Article
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1187, doi. 10.1002/ajmg.a.37543
By:
- Tüysüz, Beyhan;
- Ercan‐Sencicek, Adife Gülhan;
- Canpolat, Nur;
- Koparır, Asuman;
- Yılmaz, Saliha;
- Kılıçaslan, Işın;
- Gülez, Burcu;
- Bilguvar, Kaya;
- Günel, Murat
Publication type:
Article
Metatropic dysplasia is associated with increased fracture risk.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1373, doi. 10.1002/ajmg.a.37576
By:
- Bober, Michael B.;
- Duker, Angela L.;
- Carney, Megan;
- Ditro, Colleen P.;
- Rogers, Kenneth;
- Mackenzie, William G.
Publication type:
Article
ADAT3-related intellectual disability: Further delineation of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1142, doi. 10.1002/ajmg.a.37578
By:
- El‐Hattab, Ayman W.;
- Saleh, Mohammed A.;
- Hashem, Amal;
- Al‐Owain, Mohammed;
- Asmari, Ali Al;
- Rabei, Hala;
- Abdelraouf, Hanem;
- Hashem, Mais;
- Alazami, Anas M.;
- Patel, Nisha;
- Shaheen, Ranad;
- Faqeih, Eissa A.;
- Alkuraya, Fowzan S.
Publication type:
Article
Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1325, doi. 10.1002/ajmg.a.37579
By:
- Smyk, Marta;
- Poluha, Anna;
- Jaszczuk, Ilona;
- Bartnik, Magdalena;
- Bernaciak, Joanna;
- Nowakowska, Beata
Publication type:
Article
Monkey model of MECP2 duplication syndrome aids autism research.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1112, doi. 10.1002/ajmg.a.37646
Publication type:
Article
Erratum to Coffin-Siris Syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing-Am J Med Genet Part C 166C: 241-251.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1379, doi. 10.1002/ajmg.c.31443
By:
- Kosho, Tomoki;
- Miyake, Noriko;
- Carey, John C.
Publication type:
Article
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1317, doi. 10.1002/ajmg.a.37577
By:
- Marguet, Florent;
- Laquerrière, Annie;
- Goldenberg, Alice;
- Guerrot, Anne‐Marie;
- Quenez, Olivier;
- Flahaut, Philippe;
- Vanhulle, Catherine;
- Dumant‐Forest, Clémentine;
- Charbonnier, Françoise;
- Vezain, Myriam;
- Bekri, Soumeya;
- Tournier, Isabelle;
- Frébourg, Thierry;
- Nicolas, Gaël
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1114, doi. 10.1002/ajmg.a.37647
Publication type:
Article
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1363, doi. 10.1002/ajmg.a.37548
By:
- Yap, Patrick;
- Liebelt, Jan E.;
- Amor, David J.;
- Moore, Lynette;
- Savarirayan, Ravi
Publication type:
Article
Confirming the candidacy of THOC6 in the etiology of intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1367, doi. 10.1002/ajmg.a.37549
By:
- Anazi, Shamsa;
- Alshammari, Muneera;
- Moneis, Dorota;
- Abouelhoda, Mohamed;
- Ibrahim, Niema;
- Alkuraya, Fowzan S.
Publication type:
Article
TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1208, doi. 10.1002/ajmg.a.37561
By:
- Qian, Yajing;
- Li, Dandan;
- Ma, Lan;
- Zhang, Hongchuang;
- Gong, Miao;
- Li, Sheng;
- Yuan, Hua;
- Zhang, Weibing;
- Ma, Junqing;
- Jiang, Hongbing;
- Pan, Yongchu;
- Wang, Lin
Publication type:
Article
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1202, doi. 10.1002/ajmg.a.37560
By:
- Spielmann, Malte;
- Marx, Sylvie;
- Barbi, Gotthold;
- Flöttmann, Ricarda;
- Kehrer‐Sawatzki, Hildegard;
- König, Rainer;
- Horn, Denise;
- Mundlos, Stefan;
- Nader, Sean;
- Borck, Guntram
Publication type:
Article
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1347, doi. 10.1002/ajmg.a.37590
By:
- Liu, Huan;
- Tan, Dongqiong;
- Han, Lianshu;
- Ye, Jun;
- Qiu, Wenjuan;
- Gu, Xuefan;
- Zhang, Huiwen
Publication type:
Article
Duplication 2p25 in a child with clinical features of CHARGE syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1148, doi. 10.1002/ajmg.a.37592
By:
- Sperry, Ethan D.;
- Schuette, Jane L.;
- van Ravenswaaij‐Arts, Conny M. A.;
- Green, Glenn E.;
- Martin, Donna M.
Publication type:
Article
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1155, doi. 10.1002/ajmg.a.37593
By:
- Topa, Alexandra;
- Tulinius, Mar;
- Oldfors, Anders;
- Hedberg‐Oldfors, Carola
Publication type:
Article
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1352, doi. 10.1002/ajmg.a.37594
By:
- Cesaretti, Claudia;
- Spaccini, Luigina;
- Righini, Andrea;
- Parazzini, Cecilia;
- Conte, Giorgio;
- Crosti, Francesca;
- Redaelli, Serena;
- Bulfamante, Gaetano;
- Avagliano, Laura;
- Rustico, Mariangela
Publication type:
Article
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1165, doi. 10.1002/ajmg.a.37595
By:
- Brownstein, Catherine A.;
- Kleiman, Robin J.;
- Engle, Elizabeth C.;
- Towne, Meghan C.;
- D'Angelo, Eugene J.;
- Yu, Timothy W.;
- Beggs, Alan H.;
- Picker, Jonathan;
- Fogler, Jason M.;
- Carroll, Devon;
- Schmitt, Rachel C. O.;
- Wolff, Robert R.;
- Shen, Yiping;
- Lip, Va;
- Bilguvar, Kaya;
- Kim, April;
- Tembulkar, Sahil;
- O'Donnell, Kyle;
- Gonzalez‐Heydrich, Joseph
Publication type:
Article
Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1358, doi. 10.1002/ajmg.a.37597
By:
- Lefranc, Violaine;
- de Luca, Arnaud;
- Hankard, Régis
Publication type:
Article
Cover Image, Volume 170A, Number 5, May 2016.
Published in:
2016
By:
- Tooley, Madeleine;
- Lynch, Danielle;
- Bernier, Francois;
- Parboosingh, Jillian;
- Bhoj, Elizabeth;
- Zackai, Elaine;
- Calder, Alistair;
- Itasaki, Nobue;
- Wakeling, Emma;
- Scott, Richard;
- Lees, Melissa;
- Clayton‐Smith, Jill;
- Blyth, Moira;
- Morton, Jenny;
- Shears, Debbie;
- Kini, Usha;
- Homfray, Tessa;
- Clarke, Angus;
- Barnicoat, Angela;
- Wallis, Colin
Publication type:
Other
Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1181, doi. 10.1002/ajmg.a.37542
By:
- Omokawa, Mayu;
- Ayabe, Tadayuki;
- Nagai, Toshiro;
- Imanishi, Aya;
- Omokawa, Ayumi;
- Nishino, Seiji;
- Sagawa, Yohei;
- Shimizu, Tetsuo;
- Kanbayashi, Takashi
Publication type:
Article
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1274, doi. 10.1002/ajmg.a.37562
By:
- Usemann, Jakob;
- Ernst, Thomas;
- Schäfer, Vivien;
- Lehmberg, Kai;
- Seeger, Karl
Publication type:
Article
Crisponi/CISS1 syndrome: A case series.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1236, doi. 10.1002/ajmg.a.37569
By:
- Alhashem, Amal M.;
- Majeed–Saidan, Muhammad Ali;
- Ammari, Amer N.;
- Alrakaf, Maha S.;
- Nojoom, Maha;
- Maddirevula, Sateesh;
- Faqeih, Eissa;
- Alkuraya, Fowzan S.;
- Garne, Ester;
- Kurdi, Ahmad M.
Publication type:
Article
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1216, doi. 10.1002/ajmg.a.37564
By:
- Urquhart, Jill;
- Roberts, Rebecca;
- de Silva, Deepthi;
- Shalev, Stavit;
- Chervinsky, Elena;
- Nampoothiri, Sheela;
- Sznajer, Yves;
- Revencu, Nicole;
- Gunasekera, Romesh;
- Suri, Mohnish;
- Ellingford, Jamie;
- Williams, Simon;
- Bhaskar, Sanjeev;
- Clayton‐Smith, Jill
Publication type:
Article
The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1283, doi. 10.1002/ajmg.a.37565
By:
- Tomaszewska, Agnieszka;
- Behrendt, Jakub;
- Boter, Marjan;
- Wawrzkiewicz‐Witkowska, Angelika;
- Bos, Marnix J.;
- Podbiol‐Palenta, Agnieszka;
- Godula‐Stuglik, Urszula;
- Galjaard, Robert‐Jan H.;
- Srebniak, Malgorzata I.
Publication type:
Article
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1225, doi. 10.1002/ajmg.a.37566
By:
- Merner, Nancy;
- Forgeot d'Arc, Baudouin;
- Bell, Scott C.;
- Maussion, Gilles;
- Peng, Huashan;
- Gauthier, Julie;
- Crapper, Liam;
- Hamdan, Fadi F.;
- Michaud, Jacques L.;
- Mottron, Laurent;
- Rouleau, Guy A.;
- Ernst, Carl
Publication type:
Article
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1288, doi. 10.1002/ajmg.a.37568
By:
- Schubert, Jeffrey A.;
- Landis, Benjamin J.;
- Shikany, Amy R.;
- Hinton, Robert B.;
- Ware, Stephanie M.
Publication type:
Article