Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 12

Results: 34

Cover Image, Volume 179A, Number 12, December 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. i, doi. 10.1002/ajmg.a.61048
Publication type:
Article
Grange syndrome due to homozygous YY1AP1 missense rare variants.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2500, doi. 10.1002/ajmg.a.61379
By:
- Ciuffetelli Alamo, Isabella V.;
- Kwartler, Callie S.;
- Regalado, Ellen R.;
- Afifi, Rana O.;
- Parkash, Sandhya;
- Rideout, Andrea;
- Guo, Dong‐chuan;
- Milewicz, Dianna M.
Publication type:
Article
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2425, doi. 10.1002/ajmg.a.61378
By:
- Viskochil, David;
- Clarke, Lorne A.;
- Bay, Luisa;
- Keenan, Hillary;
- Muenzer, Joseph;
- Guffon, Nathalie
Publication type:
Article
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2494, doi. 10.1002/ajmg.a.61377
By:
- Meerschaut, Ilse;
- Beyens, Aude;
- Steyaert, Wouter;
- De Rycke, Riet;
- Bonte, Katrien;
- De Backer, Tine;
- Janssens, Sandra;
- Panzer, Joseph;
- Plasschaert, Frank;
- De Wolf, Daniël;
- Callewaert, Bert
Publication type:
Article
Cover Image, Volume 179A, Number 12, December 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. i, doi. 10.1002/ajmg.a.61048
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2327, doi. 10.1002/ajmg.a.61375
Publication type:
Article
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2433, doi. 10.1002/ajmg.a.61361
By:
- McNeill, Alana M.;
- Hudock, Rebekah L.;
- Foy, Allison M. H.;
- Shanley, Ryan;
- Semrud‐Clikeman, Margaret;
- Pierpont, Mary Ella;
- Berry, Susan A.;
- Sommer, Katherine;
- Moertel, Christopher L.;
- Pierpont, Elizabeth I.
Publication type:
Article
New Gene Editing Research Hopes to Eliminate Genetically Related Male Infertility.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2325, doi. 10.1002/ajmg.a.61374
Publication type:
Article
Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2490, doi. 10.1002/ajmg.a.61372
By:
- Forster, Katherine R.;
- Hooper, Jody E.;
- Blakemore, Karin J.;
- Baschat, Ahmet A.;
- Hoover‐Fong, Julie
Publication type:
Article
Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2486, doi. 10.1002/ajmg.a.61371
By:
- Vandeleur, Daron;
- Chen, Constance V.;
- Huang, Eric J.;
- Connolly, Andrew J.;
- Sanchez, Henry;
- Moon‐Grady, Anita J.
Publication type:
Article
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2469, doi. 10.1002/ajmg.a.61362
By:
- Atzmony, Lihi;
- Zaki, Theodore D.;
- Antaya, Richard J.;
- Choate, Keith A.
Publication type:
Article
Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2374, doi. 10.1002/ajmg.a.61360
By:
- Tran, Selena L.;
- Samango‐Sprouse, Carole A.;
- Sadeghin, Teresa;
- Powell, Sherida;
- Gropman, Andrea L.
Publication type:
Article
IFT172 as the 19th gene causative of oral‐facial‐digital syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2510, doi. 10.1002/ajmg.a.61373
By:
- Yamada, Mamiko;
- Uehara, Tomoko;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Fukushima, Hiroyuki;
- Morisada, Naoya;
- Tominaga, Kenta;
- Onoda, Motohiro;
- Kosaki, Kenjiro
Publication type:
Article
Two middle‐aged women with the Finnish variant of muscle‐eye‐brain disease (MEB).
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2481, doi. 10.1002/ajmg.a.61369
By:
- Arvio, Maria;
- Määttänen, Laura;
- Haanpää, Maria;
- Lähdetie, Jaana
Publication type:
Article
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2365, doi. 10.1002/ajmg.a.61359
By:
- Mouthon, Linda;
- Busa, Tiffany;
- Bretelle, Florence;
- Karmous‐Benailly, Houda;
- Missirian, Chantal;
- Philip, Nicole;
- Sigaudy, Sabine
Publication type:
Article
Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2517, doi. 10.1002/ajmg.a.61368
By:
- Klein, Steven D.;
- Nguyen, Dzung C.;
- Bhakta, Viraj;
- Wong, Derek;
- Chang, Vivian Y.;
- Davidson, Tom B.;
- Martinez‐Agosto, Julian A.
Publication type:
Article
Broken bones and irresponsible testimony?
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2333, doi. 10.1002/ajmg.a.61349
By:
- Paterson, Colin R.
Publication type:
Article
Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2420, doi. 10.1002/ajmg.a.61367
By:
- Clauss, Sarah B.;
- Gidding, Samuel S.;
- Cochrane, Claire I.;
- Walega, Rachel;
- Zemel, Babette S.;
- Pipan, Mary E.;
- Magge, Sheela N.;
- Kelly, Andrea;
- Cohen, Meryl S.
Publication type:
Article
Nosology and classification of genetic skeletal disorders: 2019 revision.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2393, doi. 10.1002/ajmg.a.61366
By:
- Mortier, Geert R.;
- Cohn, Daniel H.;
- Cormier‐Daire, Valerie;
- Hall, Christine;
- Krakow, Deborah;
- Mundlos, Stefan;
- Nishimura, Gen;
- Robertson, Stephen;
- Sangiorgi, Luca;
- Savarirayan, Ravi;
- Sillence, David;
- Superti‐Furga, Andrea;
- Unger, Sheila;
- Warman, Matthew L.
Publication type:
Article
Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2382, doi. 10.1002/ajmg.a.61365
By:
- Goel, Nitin;
- Morris, Joan K.;
- Tucker, David;
- Walle, Hermien E. K.;
- Bakker, Marian K.;
- Kancherla, Vijaya;
- Marengo, Lisa;
- Canfield, Mark A.;
- Kallen, Karin;
- Lelong, Nathalie;
- Camelo, Jorge L.;
- Stallings, Erin B.;
- Jones, Abbey M.;
- Nance, Amy;
- Huynh, My‐Phuong;
- Martínez‐Fernández, Maria‐Luisa;
- Sipek, Antonin;
- Pierini, Anna;
- Nembhard, Wendy N.;
- Goetz, Dorit
Publication type:
Article
ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2474, doi. 10.1002/ajmg.a.61363
By:
- Akgun‐Dogan, Ozlem;
- Simsek‐Kiper, Pelin O.;
- Taskiran, Ekim;
- Lissewski, Christina;
- Brinkmann, Julia;
- Schanze, Denny;
- Göçmen, Rahşan;
- Cagdas, Deniz;
- Bilginer, Yelda;
- Utine, Gülen E.;
- Zenker, Martin;
- Ozen, Seza;
- Tezcan, İlhan;
- Alikasifoglu, Mehmet;
- Boduroğlu, Koray
Publication type:
Article
Comments on: A de novo in‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2514, doi. 10.1002/ajmg.a.61358
By:
- Studtmann, Carleigh;
- LaConte, Leslie E. W.;
- Mukherjee, Konark
Publication type:
Article
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2506, doi. 10.1002/ajmg.a.61356
By:
- Uehara, Tomoko;
- Tsuchihashi, Takatoshi;
- Yamada, Mamiko;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Kosaki, Kenjiro
Publication type:
Article
Table of Contents, Volume 179A, Number 12, December 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2319, doi. 10.1002/ajmg.a.40466
Publication type:
Article
Duplication 2p16 is associated with perisylvian polymicrogyria.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2343, doi. 10.1002/ajmg.a.61342
By:
- Amrom, Dina;
- Poduri, Annapurna;
- Goldman, Jennifer S.;
- Dan3, Bernard;
- Deconinck3, Nicolas;
- Pichon, Bruno;
- Nadaf, Javad;
- Andermann, Frederick;
- Andermann, Eva;
- Walsh, Christopher A.;
- Dobyns, William B.
Publication type:
Article
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2454, doi. 10.1002/ajmg.a.61355
By:
- Berkun, Lina;
- Slae, Mordechai;
- Mor‐Shaked, Hagar;
- Koplewitz, Benjamin;
- Eventov‐Friedman, Smadar;
- Harel, Tamar
Publication type:
Article
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357
By:
- Pillai, Nishitha R.;
- Yubero, Delia;
- Shayota, Brian J.;
- Oyarzábal, Alfonso;
- Ghosh, Rajarshi;
- Sun, Qin;
- Azamian, Mahshid S.;
- Arjona, Cesar;
- Brandi, Núria;
- Palau, Francesc;
- Lalani, Seema R.;
- Artuch, Rafael;
- García‐Cazorla, Angeles;
- Scott, Daryl A.
Publication type:
Article
Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2329, doi. 10.1002/ajmg.a.61348
By:
- Shur, Natasha;
- Hinds, Tanya;
- Shalaby‐Rana, Eglal;
- Tinkle, Brad;
- Frasier, Lori;
- Bulas, Dorothy;
- Summar, Marshall;
- Jackson, Allison
Publication type:
Article
Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2338, doi. 10.1002/ajmg.a.61340
By:
- McPherson, Elizabeth
Publication type:
Article
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2447, doi. 10.1002/ajmg.a.61354
By:
- Courage, Carolina;
- Jackson, Christopher B.;
- Owczarek‐Lipska, Marta;
- Jamsheer, Aleksander;
- Sowińska‐Seidler, Anna;
- Piotrowicz, Małgorzata;
- Jakubowski, Lucjusz;
- Dallèves, Fanny;
- Riesch, Erik;
- Neidhardt, John;
- Lemke, Johannes R.
Publication type:
Article
An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2357, doi. 10.1002/ajmg.a.61353
By:
- Castelluccio, Valerie J.;
- Vetrini, Francesco;
- Lynnes, Ty;
- Jones, Julie;
- Holloway, Lynda;
- Belonis, Alyce;
- Breman, Amy M.;
- Graham, Brett H.;
- Sapp, Katherine;
- Wilson, Theodore;
- Schwartz, Charles E.;
- Pratt, Victoria M.;
- Weaver, David D.
Publication type:
Article
The Promise of Pharmacogenomics: Genetic variation can be used to individualize drug therapy, and is an integral component of genomic medicine.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2324, doi. 10.1002/ajmg.a.40468
Publication type:
Article
Publication schedule for 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2323, doi. 10.1002/ajmg.a.40467
Publication type:
Article
Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2335, doi. 10.1002/ajmg.a.61347
By:
- Shur, Natasha;
- Tinkle, Brad;
- Summar, Marshall;
- Frasier, Lori;
- Shalaby‐Rana, Eglal;
- McIntosh, Bruce
Publication type:
Article