Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 12

Results: 26

Two novel mutations in XYLT2 cause spondyloocular syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3195, doi. 10.1002/ajmg.a.38470

By:

Taylan, Fulya;
Yavaş Abalı, Zehra;
Jäntti, Nina;
Güneş, Nilay;
Darendeliler, Feyza;
Baş, Firdevs;
Poyrazoğlu, Şükran;
Tamçelik, Nevbahar;
Tüysüz, Beyhan;
Mäkitie, Outi

Publication type:

Article

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3189, doi. 10.1002/ajmg.a.38473

By:

Li, Niu;
Chang, Guoying;
Xu, Yufei;
Ding, Yu;
Li, Guoqiang;
Yu, Tingting;
Yao, Ruen;
Li, Juan;
Shen, Yiping;
Wang, Xiumin;
Wang, Jian

Publication type:

Article

Cryptographic Strategy Could Deliver Better Genomic Privacy.

Published in:: 2017
Publication type:: Other

In this issue.

Published in:: 2017
Publication type:: Other

Cover Image, Volume 173A, Number 12, December 2017.

Published in:

2017

By:

Hardee, Isabel;
Soldatos, Ariane;
Davids, Mariska;
Vilboux, Thierry;
Toro, Camilo;
David, Karen L.;
Ferreira, Carlos R.;
Nehrebecky, Michele;
Snow, Joseph;
Thurm, Audrey;
Heller, Theo;
Macnamara, Ellen F.;
Gunay‐Aygun, Meral;
Zein, Wadih M.;
Gahl, William A.;
Malicdan, May Christine V.

Publication type:

Other

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3136, doi. 10.1002/ajmg.a.38490

By:

Lehalle, Daphné;
Altunoglu, Umut;
Bruel, Ange‐Line;
Arnaud, Eric;
Blanchet, Patricia;
Choi, Jong‐Woo;
Désir, Julie;
Kiliç, Esra;
Lederer, Damien;
Pinson, Lucile;
Thauvin‐Robinet, Christel;
Singer, Amihood;
Thevenon, Julien;
Callier, Patrick;
Kayserili, Hulya;
Faivre, Laurence

Publication type:

Article

Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3132, doi. 10.1002/ajmg.a.38491

By:

Pekkinen, Minna;
Grigelioniene, Giedre;
Akin, Leyla;
Shah, Krati;
Karaer, Kadri;
Kurtoğlu, Selim;
Ekbote, Alka;
Aycan, Zehra;
Sağsak, Elif;
Danda, Sumita;
Åström, Eva;
Mäkitie, Outi

Publication type:

Article

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3143, doi. 10.1002/ajmg.a.38495

By:

Taskiran, Ekim Z.;
Karaosmanoglu, Beren;
Koşukcu, Can;
Doğan, Özlem A.;
Taylan‐Şekeroğlu, Hande;
Şimşek‐Kiper, Pelin Ö.;
Utine, Eda G.;
Boduroğlu, Koray;
Alikaşifoğlu, Mehmet

Publication type:

Article

Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3127, doi. 10.1002/ajmg.a.38496

By:

Michels, Savannah;
Foss, Kimberly;
Park, Kaylee;
Golden‐Grant, Katie;
Saneto, Russell;
Lopez, Jonathan;
Mirzaa, Ghayda M.

Publication type:

Article

Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3153, doi. 10.1002/ajmg.a.38497

By:

Putra, Manesha;
Surti, Urvashi;
Hu, Jie;
Steele, Deana;
Clemens, Michele;
Saller, Devereux N.;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Article

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3205, doi. 10.1002/ajmg.a.38498

By:

Hurd, Lauren M.;
Thacker, Mihir M.;
Okenfuss, Ericka;
Duker, Angela L.;
Lou, Yang;
Harty, Mary P.;
Conard, Katrina;
Lian, Jane B.;
Bober, Michael B.

Publication type:

Article

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3231, doi. 10.1002/ajmg.a.38376

By:

Hardee, Isabel;
Soldatos, Ariane;
Davids, Mariska;
Vilboux, Thierry;
Toro, Camilo;
David, Karen L.;
Ferreira, Carlos R.;
Nehrebecky, Michele;
Snow, Joseph;
Thurm, Audrey;
Heller, Theo;
Macnamara, Ellen F.;
Gunay‐Aygun, Meral;
Zein, Wadih M.;
Gahl, William A.;
Malicdan, May Christine V.

Publication type:

Article

'Minimal' holoprosencephaly in a 14q deletion syndrome patient.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3216, doi. 10.1002/ajmg.a.38378

By:

Della Giustina, Elvio;
Iodice, Alessandro;
Spagnoli, Carlotta;
Giovannini, Simona;
Frattini, Daniele;
Fusco, Carlo;
Gobbi, Giuseppe;
Zollino, Marcella;
Neri, Giovanni

Publication type:

Article

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome.

Published in:

2017

By:

van Amen‐Hellebrekers, Claudia J. M.;
Jansen, Sandra;
Stegmann, Alexander P. A.;
Stevens, Servi J. C.;
Pfundt, Rolph;
de Vries, Bert B. A.

Publication type:

Other

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3158, doi. 10.1002/ajmg.a.38460

By:

Revah‐Politi, Anya;
Ganapathi, Mythily;
Bier, Louise;
Cho, Megan T.;
Goldstein, David B.;
Hemati, Parisa;
Iglesias, Alejandro;
Juusola, Jane;
Pappas, John;
Petrovski, Slavé;
Wilson, Ashley L.;
Aggarwal, Vimla S.;
Anyane‐Yeboa, Kwame

Publication type:

Article

De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3165, doi. 10.1002/ajmg.a.38461

By:

Green, Claire;
Willoughby, Joshua;
Balasubramanian, Meena

Publication type:

Article

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3172, doi. 10.1002/ajmg.a.38462

By:

Myers, Angela;
du Souich, Christèle;
Yang, Connie L.;
Borovik, Lior;
Mwenifumbo, Jill;
Rupps, Rosemarie;
Study, CAUSES;
Lehman, Anna;
Boerkoel, Cornelius F.

Publication type:

Article

Chimerism for 20q11.2 microdeletion of GDF5 explains discordant phenotypes in monochorionic-diamniotic twins.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3182, doi. 10.1002/ajmg.a.38463

By:

Meredith, Matthew M.;
Crabb, Beau;
Vargas, Marcelo;
Hirsch, Betsy A.

Publication type:

Article

Peeling skin syndrome associated with novel variant in FLG2 gene.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3201, doi. 10.1002/ajmg.a.38468

By:

Alfares, Ahmed;
Al‐Khenaizan, Sultan;
Al Mutairi, Fuad

Publication type:

Article

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3221, doi. 10.1002/ajmg.a.38415

By:

Crapster, J. Aaron;
Hudgins, Louanne;
Chen, James K.;
Gomez‐Ospina, Natalia

Publication type:

Article

Table of Contents, Volume 173A, Number 12, December 2017.

Published in:: 2017
Publication type:: Other

Publication schedule for 2017.

Published in:: 2017
Publication type:: Other

Study Points to Value of Genetic Testing in Epilepsy.

Published in:: 2017
Publication type:: Other

STAR syndrome plus: The first description of a female patient with the lethal form.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3226, doi. 10.1002/ajmg.a.38484

By:

Bedeschi, Maria F.;
Giangiobbe, Sara;
Paganini, Leda;
Tabano, Silvia;
Silipigni, Rosamaria;
Colombo, Lorenzo;
Crippa, Beatrice L.;
Lalatta, Faustina;
Guerneri, Silvana;
Miozzo, Monica

Publication type:

Article

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3211, doi. 10.1002/ajmg.a.38487

By:

Hagege, Ermias;
Grey, Richard J.;
Lopez, Grisel;
Roshan Lal, Tamanna;
Sidransky, Ellen;
Tayebi, Nahid

Publication type:

Article

Corrigendum: Psychiatric and psychological aspects in the Ehlers-Danlos syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3241, doi. 10.1002/ajmg.a.38488

By:

Bulbena‐Cabré, Andrea;
Bulbena, Antonio

Publication type:

Article