Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 8

Results: 41

Gene therapy for severe combined immune deficiency poised for European approval.

Published in:: 2016
Publication type:: Other

A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2089, doi. 10.1002/ajmg.a.37754

By:

Lebedev, Igor N.;
Nazarenko, Lyudmila P.;
Skryabin, Nikolay A.;
Babushkina, Nadezhda P.;
Kashevarova, Anna A.

Publication type:

Article

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1989, doi. 10.1002/ajmg.a.37757

By:

De Maria, Beatrice;
Mazzanti, Laura;
Roche, Nathalie;
Hennekam, Raoul C.

Publication type:

Article

Table of Contents, Volume 170A, Number 8, August 2016.

Published in:: 2016
Publication type:: Other

Publication schedule for 2016.

Published in:: 2016
Publication type:: Other

Facial malformation atlas aims to aid diagnosis of genetic disorders in patients of non-European descent.

Published in:: 2016
Publication type:: Other

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2196, doi. 10.1002/ajmg.a.37770

By:

Mozzillo, Enza;
Cozzolino, Carla;
Genesio, Rita;
Melis, Daniela;
Frisso, Giulia;
Orrico, Ada;
Lombardo, Barbara;
Fattorusso, Valentina;
Discepolo, Valentina;
Della Casa, Roberto;
Simonelli, Francesca;
Nitsch, Lucio;
Salvatore, Francesco;
Franzese, Adriana

Publication type:

Article

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2200, doi. 10.1002/ajmg.a.37773

By:

Lee, Jin Sook;
Yoo, Yongjin;
Lim, Byung Chan;
Kim, Ki Joong;
Song, Junghan;
Choi, Murim;
Chae, Jong‐Hee

Publication type:

Article

Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2044, doi. 10.1002/ajmg.a.37774

By:

Bovet, Claire;
Carlson, Matthew;
Taylor, Matthew

Publication type:

Article

Etiologies of uterine malformations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2141, doi. 10.1002/ajmg.a.37775

By:

Jacquinet, Adeline;
Millar, Debra;
Lehman, Anna

Publication type:

Article

Achondroplasia: Really rhizomelic?

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2039, doi. 10.1002/ajmg.a.37776

By:

Shelmerdine, Susan Cheng;
Brittain, Helen;
Arthurs, Owen J.;
Calder, Alistair D.

Publication type:

Article

Gastroschisis and maternal intake of phytoestrogens.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2078, doi. 10.1002/ajmg.a.37659

By:

Wadhwa, Elizabeth L.;
Ma, Chen;
Shaw, Gary M.;
Carmichael, Suzan L.

Publication type:

Article

Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2060, doi. 10.1002/ajmg.a.37720

By:

Cologna, Stephanie M.;
Shieh, Christine;
Toth, Cynthia L.;
Cougnoux, Antony;
Burkert, Kathryn R.;
Bianconi, Simona E.;
Wassif, Christopher A.;
Porter, Forbes D.

Publication type:

Article

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2002, doi. 10.1002/ajmg.a.37721

By:

Fahrner, Jill A.;
Liu, Raymond;
Perry, Michael Scott;
Klein, Jessica;
Chan, David C.

Publication type:

Article

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1967, doi. 10.1002/ajmg.a.37722

By:

Zarate, Yuri A.;
Bhoj, Elizabeth;
Kaylor, Julie;
Li, Dong;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Matsumoto, Naomichi;
Phadke, Shubha;
Escobar, Luis;
Irani, Afifa;
Hakonarson, Hakon;
Schrier Vergano, Samantha A.

Publication type:

Article

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1959, doi. 10.1002/ajmg.a.37723

By:

Stevenson, David A.;
Schill, Lisa;
Schoyer, Lisa;
Andresen, Brage S.;
Bakker, Annette;
Bayrak‐Toydemir, Pinar;
Burkitt‐Wright, Emma;
Chatfield, Kathryn;
Elefteriou, Florent;
Elgersma, Ype;
Fisher, Michael J.;
Franz, David;
Gelb, Bruce D.;
Goriely, Anne;
Gripp, Karen W.;
Hardan, Antonio Y.;
Keppler‐Noreuil, Kim M.;
Kerr, Bronwyn;
Korf, Bruce;
Leoni, Chiara

Publication type:

Article

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2133, doi. 10.1002/ajmg.a.37724

By:

Abdel‐Hamid, Mohamed S.;
Ismail, Manal F.;
Darwish, Hebatallh A.;
Effat, Laila K.;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1974, doi. 10.1002/ajmg.a.37725

By:

Pierpont, Elizabeth I.;
Wolford, Melinda

Publication type:

Article

First clinical report of an infant with microcephaly and CASC5 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2215, doi. 10.1002/ajmg.a.37726

By:

Zarate, Yuri A.;
Kaylor, Julie A.;
Bosanko, Katherine;
Lau, Sarah;
Vargas, Jose;
Gao, Hanlin

Publication type:

Article

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2181, doi. 10.1002/ajmg.a.37727

By:

Bi, Weimin;
Glass, Ian A.;
Muzny, Donna M.;
Gibbs, Richard A.;
Eng, Christine M.;
Yang, Yaping;
Sun, Angela

Publication type:

Article

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2031, doi. 10.1002/ajmg.a.37728

By:

Dordoni, Chiara;
Ciaccio, Claudia;
Venturini, Marina;
Calzavara‐Pinton, Piergiacomo;
Ritelli, Marco;
Colombi, Marina

Publication type:

Article

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2173, doi. 10.1002/ajmg.a.37678

By:

Reinson, Karit;
Õiglane‐Shlik, Eve;
Talvik, Inga;
Vaher, Ulvi;
Õunapuu, Anne;
Ennok, Margus;
Teek, Rita;
Pajusalu, Sander;
Murumets, Ülle;
Tomberg, Tiiu;
Puusepp, Sanna;
Piirsoo, Andres;
Reimand, Tiia;
Õunap, Katrin

Publication type:

Article

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2111, doi. 10.1002/ajmg.a.37741

By:

Akawi, Nadia;
Ben‐Salem, Salma;
Lahti, Laura;
Partanen, Juha;
Ali, Bassam R.;
Al‐Gazali, Lihadh

Publication type:

Article

Is the diagnostic yield influenced by the indication for fetal autopsy?

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2119, doi. 10.1002/ajmg.a.37743

By:

Puri, Ratna Dua;
Kotecha, Udhaya;
Lall, Meena;
Dash, Pratima;
Bijarnia‐Mahay, Sunita;
Verma, Ishwar Chander

Publication type:

Article

Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2212, doi. 10.1002/ajmg.a.37744

By:

Nishimura, Gen;
Nakajima, Masahiro;
Takikawa, Kazuharu;
Haga, Nobuhiko;
Ikegawa, Shiro

Publication type:

Article

Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2186, doi. 10.1002/ajmg.a.37745

By:

Kelle, Angela M.;
Bentley, S. Jared;
Rohena, Luis O.;
Cabalka, Allison K.;
Olson, Timothy M.

Publication type:

Article

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. 8, p. 2097, doi. 10.1002/ajmg.a.37749

By:

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

Publication type:

Article

Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2022, doi. 10.1002/ajmg.a.37692

By:

Vesseur, Annemarie;
Langereis, Margreet;
Free, Rolien;
Snik, Ad;
van Ravenswaaij‐Arts, Conny;
Mylanus, Emmanuel

Publication type:

Article

Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2177, doi. 10.1002/ajmg.a.37694

By:

Braverman, Alan C.;
Moon, Marc R.;
Geraghty, Patrick;
Willing, Marcia;
Bach, Christopher;
Kouchoukos, Nicholas T.

Publication type:

Article

'I'm Healthy, It's Not Going To Be Me': Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2052, doi. 10.1002/ajmg.a.37697

By:

Beard, Catherine A.;
Amor, David J.;
Di Pietro, Louisa;
Archibald, Alison D.

Publication type:

Article

Physical measurements of Chinese children in Hong Kong-A pilot study in preschools and kindergartens.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2069, doi. 10.1002/ajmg.a.37764

By:

Mok, Gary T. K.;
Chan, Sharon S.;
Chu, Yoyo W. Y.;
Chan, Sau Man;
Wong, Wilfred H. S.;
Chung, Brian H. Y.

Publication type:

Article

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2103, doi. 10.1002/ajmg.a.37765

By:

Masurel‐Paulet, Alice;
Piton, Amélie;
Chancenotte, Sophie;
Redin, Claire;
Thauvin‐Robinet, Christel;
Henrenger, Yvan;
Minot, Delphine;
Creppy, Audrey;
Ruffier‐Bourdet, Marie;
Thevenon, Julien;
Kuentz, Paul;
Lehalle, Daphné;
Curie, Aurore;
Blanchard, Gaelle;
Ghosn, Ezzat;
Bonnet, Marlene;
Archimbaud‐Devilliers, Mélanie;
Huet, Frédéric;
Perret, Odile;
Philip, Nicole

Publication type:

Article

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2127, doi. 10.1002/ajmg.a.37766

By:

Nair, Pratibha;
Hamzeh, Abdul Rezzak;
Mohamed, Madiha;
Saif, Fatima;
Tawfiq, Nafisa;
El Halik, Majdi;
Al‐Ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

Article

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2191, doi. 10.1002/ajmg.a.37767

By:

Pasetti, Martina;
Mazzoleni, Fabio;
Novelli, Giorgio;
Iascone, Maria;
Bozzetti, Alberto;
Selicorni, Angelo

Publication type:

Article

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2219, doi. 10.1002/ajmg.a.37768

By:

Seidahmed, Mohammed Zain;
Salih, Mustafa A.;
Abdelbasit, Omer Bashir;
Alassiri, Ali H.;
Hussein, Khalid Al;
Miqdad, Abeer;
Samadi, Abdelmohsin;
Rasheed, Abdallah Al;
Alorainy, Ibrahim A.;
Shaheen, Ranad;
Alkuraya, Fowzan S.

Publication type:

Article

Quality of life in adolescents and adults with CHARGE syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2012, doi. 10.1002/ajmg.a.37769

By:

Hartshorne, Nancy;
Hudson, Alexandra;
MacCuspie, Jillian;
Kennert, Benjamin;
Nacarato, Tasha;
Hartshorne, Timothy;
Blake, Kim

Publication type:

Article

In this issue.

Published in:: 2016
Publication type:: Other

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2206, doi. 10.1002/ajmg.a.37780

By:

Leduc, Magalie S.;
Niu, Zhiyv;
Bi, Weimin;
Zhu, Wenmiao;
Miloslavskaya, Irene;
Chiang, Theodore;
Streff, Haley;
Seavitt, John R.;
Murray, Stephen A.;
Eng, Christine;
Chan, Audrey;
Yang, Yaping;
Lalani, Seema R.

Publication type:

Article

Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2083, doi. 10.1002/ajmg.a.37730

By:

Hufnagel, Sophia B.;
Martin, Lisa J.;
Cassedy, Amy;
Hopkin, Robert J.;
Antommaria, Armand H. Matheny

Publication type:

Article

Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2222, doi. 10.1002/ajmg.a.37731

By:

Prasad, Rathi;
Brewer, Carole;
Burren, Christine P.

Publication type:

Article

Cover Image, Volume 170A, Number 8, August 2016.

Published in:

2016

By:

Akawi, Nadia;
Ben‐Salem, Salma;
Lahti, Laura;
Partanen, Juha;
Ali, Bassam R.;
Al‐Gazali, Lihadh

Publication type:

Other