Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 4

Results: 36

American Journal of Medical Genetics Part A: Volume 164A, Number 4, April 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. C1, doi. 10.1002/ajmg.a.36561
Publication type:: Article

Cell-free Fetal DNA Tests Appropriately Used by Geneticists, Often Misunderstood by Patients.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. vii, doi. 10.1002/ajmg.a.36536

By:

Levenson, Deborah

Publication type:

Article

A vascular and thrombotic model of gastroschisis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 915, doi. 10.1002/ajmg.a.36370

By:

Lubinsky, Mark

Publication type:

Article

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1035, doi. 10.1002/ajmg.a.36381

By:

Girisha, Katta M.;
Abdollahpour, Hengameh;
Shah, Hitesh;
Bhavani, Gandham SriLakshmi;
Graham, John M.;
Boggula, Vijay Raju;
Phadke, Shubha R.;
Kutsche, Kerstin

Publication type:

Article

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1049, doi. 10.1002/ajmg.a.36392

By:

Van Asbeck, Ellyze;
Wolthuis, David F.G.J.;
Mohamed, Miski;
Wevers, Ron A.;
Korenke, Cristoph G.;
Gardeitchik, Thatjana;
Morava, Eva

Publication type:

Article

The Society of Craniofacial Genetics and Developmental Biology 34th Annual Meeting.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 874, doi. 10.1002/ajmg.a.35283

By:

Cordero, Dwight R.

Publication type:

Article

Behavioral Profile in RASopathies.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 934, doi. 10.1002/ajmg.a.36374

By:

Alfieri, Paolo;
Piccini, Giorgia;
Caciolo, Cristina;
Perrino, Francesca;
Gambardella, Maria Luigia;
Mallardi, Maria;
Cesarini, Laura;
Leoni, Chiara;
Leone, Daniela;
Fossati, Chiara;
Selicorni, Angelo;
Digilio, Maria Cristina;
Tartaglia, Marco;
Mercuri, Eugenio;
Zampino, Giuseppe;
Vicari, Stefano

Publication type:

Article

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1069, doi. 10.1002/ajmg.a.36396

By:

Thapa, Monika;
Asamoah, Alexander;
Gowans, Gordon C.;
Platky, Kathryn C.;
Barch, Margaret J.;
Mouchrani, Patricia;
Rajakaruna, Cecilia;
Hersh, Joseph H.

Publication type:

Article

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 898, doi. 10.1002/ajmg.a.36367

By:

Girisha, Katta M.;
Bidchol, Abdul Mueed;
Kamath, Preeti S.;
Shah, Krupa H.;
Mortier, Geert R.;
Mundlos, Stefan;
Shah, Hitesh

Publication type:

Article

Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1075, doi. 10.1002/ajmg.a.36378

By:

García, Mónica Martínez;
Velez, Camilo;
Fenollar‐Cortés, María;
Bustamante, Ana;
Lorda‐Sanchez, Isabel;
Soriano‐Guillén, Leandro;
Trujillo‐Tiebas, María‐José

Publication type:

Article

Epidemiologic features of male genital malformations and subtypes in Texas.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 943, doi. 10.1002/ajmg.a.36389

By:

Agopian, A.J.;
Langlois, Peter H.;
Ramakrishnan, Anushuya;
Canfield, Mark A.

Publication type:

Article

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1079, doi. 10.1002/ajmg.a.36432

By:

Starr, Lois J.;
Sanmann, Jennifer N.;
Olney, Ann Haskins;
Wandoloski, Melissa;
Sanger, Warren G.;
Coulter, Donald W.

Publication type:

Article

MECP2 duplication: Possible cause of severe phenotype in females.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1029, doi. 10.1002/ajmg.a.36380

By:

Scott Schwoerer, Jessica;
Laffin, Jennifer;
Haun, Joanne;
Raca, Gordana;
Friez, Michael J.;
Giampietro, Philip F.

Publication type:

Article

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 924, doi. 10.1002/ajmg.a.36373

By:

Fukushi, Daisuke;
Yamada, Kenichiro;
Nomura, Noriko;
Naiki, Misako;
Kimura, Reiko;
Yamada, Yasukazu;
Kumagai, Toshiyuki;
Yamaguchi, Kumiko;
Miyake, Yoshishige;
Wakamatsu, Nobuaki

Publication type:

Article

A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1021, doi. 10.1002/ajmg.a.36377

By:

Fukai, Ryoko;
Hiraki, Yoko;
Nishimura, Gen;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1041, doi. 10.1002/ajmg.a.36388

By:

Kantaputra, P.;
Kaewgahya, M.;
Jotikasthira, D.;
Kantaputra, W.

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. x, doi. 10.1002/ajmg.a.36538
Publication type:: Article

Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1062, doi. 10.1002/ajmg.a.36390

By:

Weaver, K. Nicole;
El Hallek, Moussa;
Hopkin, Robert J.;
Sund, Kristen L.;
Henrickson, Michael;
del Gaudio, Daniela;
Yuksel, Adnan;
Acar, Gül Ozbilen;
Bober, Michael B.;
Kim, Jinoh;
Boyadjiev, Simeon A.

Publication type:

Article

A second family with autosomal recessive spondylometaphyseal dysplasia and early death.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1010, doi. 10.1002/ajmg.a.36372

By:

Mégarbané, André;
Mehawej, Cybel;
Zahr, Amir El;
Haddad, Soha;
Cormier‐Daire, Valérie

Publication type:

Article

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1056, doi. 10.1002/ajmg.a.36394

By:

Posmyk, Renata;
Leśniewicz, Ryszard;
Gogiel, Magdalena;
Chorąży, Monika;
Bakunowicz‐Łazarczyk, Alina;
Sielicka, Danuta;
Vermeesch, Joris;
Nowakowska, Beata Anna

Publication type:

Article

Proposed regulations for research with biospecimens: Responses from stakeholders at CTSA consortium institutions.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 892, doi. 10.1002/ajmg.a.36365

By:

Botkin, Jeffrey R.;
Anderson, Rebecca;
Murray, Tom;
Beskow, Laura M.;
Maschke, Karen;
Cuttler, Leona

Publication type:

Article

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1015, doi. 10.1002/ajmg.a.36376

By:

Gargano, Giancarlo;
Guidotti, Isotta;
Balestri, Eleonora;
Vagnarelli, Federica;
Rosato, Simonetta;
Comitini, Giuseppina;
Wischmeijer, Anita;
La Sala, Giovanni Battista;
Iughetti, Lorenzo;
Cordeddu, Viviana;
Rossi, Cesare;
Tartaglia, Marco;
Garavelli, Livia

Publication type:

Article

A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 998, doi. 10.1002/ajmg.a.36369

By:

Fujita, Atsushi;
Ochi, Nobuhiko;
Fujimaki, Hidehiko;
Muramatsu, Hideki;
Takahashi, Yoshiyuki;
Natsume, Jun;
Kojima, Seiji;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Table of Contents, Volume 164A, Number 4, April 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. fm i, doi. 10.1002/ajmg.a.36562
Publication type:: Article

Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 966, doi. 10.1002/ajmg.a.36441

By:

Ye, Maoqing;
Parente, Fabienne;
Li, Xiaodong;
Perryman, M. Benjamin;
Zelante, Leopoldo;
Wynshaw‐Boris, Anthony;
Chen, Ju;
Grossfeld, Paul

Publication type:

Article

Online Healthcare Network To Promote Data Sharing, Communication About Genetic Conditions.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. viii, doi. 10.1002/ajmg.a.36537
Publication type:: Article

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 918, doi. 10.1002/ajmg.a.36371

By:

Martínez, Francisco;
Roselló, Mónica;
Mayo, Sonia;
Monfort, Sandra;
Oltra, Silvestre;
Orellana, Carmen

Publication type:

Article

If not Angelman, what is it? a review of Angelman-like syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 975, doi. 10.1002/ajmg.a.36416

By:

Tan, Wen‐Hann;
Bird, Lynne M.;
Thibert, Ronald L.;
Williams, Charles A.

Publication type:

Article

Corrigendum to 'Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A:2316-2320'.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1083, doi. 10.1002/ajmg.a.36382

By:

Peron, Angela;
Schwartz, Charles E.

Publication type:

Article

De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 958, doi. 10.1002/ajmg.a.36393

By:

Amarillo, Ina E.;
Li, Wenhui Laura;
Li, Xinmin;
Vilain, Eric;
Kantarci, Sibel

Publication type:

Article

Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 993, doi. 10.1002/ajmg.a.36364

By:

Kosaki, Rika;
Takenouchi, Toshiki;
Takeda, Noriko;
Kagami, Masayo;
Nakabayashi, Kazuhiko;
Hata, Kenichiro;
Kosaki, Kenjiro

Publication type:

Article

Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1003, doi. 10.1002/ajmg.a.36375

By:

Hanson, Helen L.;
Wilson, Meredith J.;
Short, John P.;
Chioza, Barry A.;
Crosby, Andrew H.;
Nash, Ruth M.;
Marks, Karen J.;
Mansour, Sahar

Publication type:

Article

Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 859, doi. 10.1002/ajmg.a.36397

By:

Hall, Judith G.

Publication type:

Article

Summarizing craniofacial genetics and developmental biology (SCGDB).

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 884, doi. 10.1002/ajmg.a.35288

By:

Hall, Brian K.

Publication type:

Article

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 907, doi. 10.1002/ajmg.a.36368

By:

Hartill, Verity L.;
Tysoe, Carolyn;
Manning, Nigel;
Dobbie, Angus;
Santra, Saikat;
Walter, John;
Caswell, Richard;
Koster, Janet;
Waterham, Hans;
Hobson, Emma

Publication type:

Article

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 950, doi. 10.1002/ajmg.a.36379

By:

Yu, Hung‐Chun;
Geiger, Elizabeth A.;
Medne, Livija;
Zackai, Elaine H.;
Shaikh, Tamim H.

Publication type:

Article