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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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