Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 2

Results: 42

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 266, doi. 10.1002/ajmg.a.38609
Publication type:: Article

Reanalysis of clinical whole‐exome sequence data yields multiple new diagnoses.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 264, doi. 10.1002/ajmg.a.38608
Publication type:: Article

Cover Image, Volume 176A, Number 2, February 2018.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. i, doi. 10.1002/ajmg.a.38607

By:

Chen, Ming Hui;
Choudhury, Sangita;
Hirata, Mami;
Khalsa, Siri;
Chang, Bernard;
Walsh, Christopher A.

Publication type:

Article

Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision‐making.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 277, doi. 10.1002/ajmg.a.38584

By:

Corbitt, Holly;
Maslen, Cheryl;
Prakash, Siddharth;
Morris, Shaine A.;
Silberbach, Michael

Publication type:

Article

Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 376, doi. 10.1002/ajmg.a.38583

By:

Kraft, Stephanie A.;
McMullen, Carmit K.;
Porter, Kathryn M.;
Kauffman, Tia L.;
Davis, James V.;
Schneider, Jennifer L.;
Goddard, Katrina A. B.;
Wilfond, Benjamin S.

Publication type:

Article

Prader–Willi syndrome and early‐onset morbid obesity NIH rare disease consortium: A review of natural history study.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 368, doi. 10.1002/ajmg.a.38582

By:

Butler, Merlin G.;
Kimonis, Virginia;
Dykens, Elisabeth;
Gold, June A.;
Miller, Jennifer;
Tamura, Roy;
Driscoll, Daniel J.

Publication type:

Article

The expanding phenotype of <italic>RNU4ATAC</italic> pathogenic variants to Lowry Wood syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 465, doi. 10.1002/ajmg.a.38581

By:

Farach, Laura S.;
Little, Mary E.;
Duker, Angela L.;
Logan, Clare V.;
Jackson, Andrew;
Hecht, Jaqueline T.;
Bober, Michael

Publication type:

Article

Thoracic aortic aneurysm in patients with loss of function <italic>Filamin A</italic> mutations: Clinical characterization, genetics, and recommendations.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 337, doi. 10.1002/ajmg.a.38580

By:

Chen, Ming Hui;
Choudhury, Sangita;
Hirata, Mami;
Khalsa, Siri;
Chang, Bernard;
Walsh, Christopher A.

Publication type:

Article

VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 502, doi. 10.1002/ajmg.a.38579

By:

Hwang, Samuel;
Rudd, Mary Katharine;
Finch, Lisa;
Peterson, Suzanne E.;
Kapur, Raj P.

Publication type:

Article

Manifestation of recessive combined D‐2‐, L‐2‐hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 351, doi. 10.1002/ajmg.a.38578

By:

Eguchi, Mariko;
Ozaki, Erina;
Yamauchi, Toshifumi;
Ohta, Masaaki;
Higaki, Takashi;
Masuda, Kiyoshi;
Imoto, Issei;
Ishii, Eiichi;
Eguchi‐Ishimae, Minenori

Publication type:

Article

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 359, doi. 10.1002/ajmg.a.38577

By:

Ahmed, Atif A.;
Skaria, Priya;
Safina, Nicole P.;
Thiffault, Isabelle;
Kats, Alex;
Taboada, Eugenio;
Habeebu, Sultan;
Saunders, Carol

Publication type:

Article

Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 499, doi. 10.1002/ajmg.a.38575

By:

Aggarwal, Shagun;
Tandon, Ashwani;
Bhowmik, Aneek Das;
Dalal, Ashwin

Publication type:

Article

A novel homozygous <italic>SLC25A1</italic> mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 330, doi. 10.1002/ajmg.a.38574

By:

Cohen, Idan;
Staretz‐Chacham, Orna;
Wormser, Ohad;
Perez, Yonatan;
Saada, Ann;
Kadir, Rotem;
Birk, Ohad S.

Publication type:

Article

Genetic diagnosis of Down syndrome in an underserved community.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 483, doi. 10.1002/ajmg.a.38573

By:

Sobering, Andrew K.;
Stevens, Joshua B.;
Smith, Janice L.;
Nelson, Beverly;
Donald, Tyhiesia;
Elsea, Sarah H.

Publication type:

Article

Associations between laterality of orofacial clefts and medical and academic outcomes.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 267, doi. 10.1002/ajmg.a.38567

By:

Gallagher, Emily R.;
Siebold, Babette;
Collett, Brent R.;
Cox, Timothy C.;
Aziz, Verena;
Cunningham, Michael L.

Publication type:

Article

A novel truncating variant within exon 7 of <italic>KAT6B</italic> associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of <italic>KAT6B</italic>‐related disorders

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 455, doi. 10.1002/ajmg.a.38571

By:

Marangi, Giuseppe;
Di Giacomo, Marilena C.;
Lattante, Serena;
Orteschi, Daniela;
Patrizi, Sara;
Doronzio, Paolo N.;
Riviello, Francesco N.;
Vaisfeld, Alessandro;
Frangella, Silvia;
Zollino, Marcella

Publication type:

Article

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 450, doi. 10.1002/ajmg.a.38570

By:

Deshwar, Ashish R.;
Dupuis, Lucie;
Bergmann, Carsten;
Stavropoulos, James;
Mendoza‐Londono, Roberto

Publication type:

Article

The novel <italic>RAF1</italic> mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 470, doi. 10.1002/ajmg.a.38569

By:

Harms, Frederike L.;
Alawi, Malik;
Amor, David J.;
Tan, Tiong Y.;
Cuturilo, Goran;
Lissewski, Christina;
Brinkmann, Julia;
Schanze, Denny;
Kutsche, Kerstin;
Zenker, Martin

Publication type:

Article

Elsahy–Waters syndrome is caused by biallelic mutations in <italic>CDH11</italic>.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 477, doi. 10.1002/ajmg.a.38568

By:

Harms, Frederike L.;
Nampoothiri, Sheela;
Anazi, Shams;
Yesodharan, Dhanya;
Alawi, Malik;
Kutsche, Kerstin;
Alkuraya, Fowzan S.

Publication type:

Article

“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 460, doi. 10.1002/ajmg.a.38572

By:

Abdalla, Ebtesam;
El‐Beheiry, Ahmed;
Dieterich, Klaus;
Thevenon, Julien;
Fauré, Julien;
Rendu, John

Publication type:

Article

Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the <italic>IGF1R</italic> gene.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 443, doi. 10.1002/ajmg.a.38566

By:

Szabó, András;
Czakó, Márta;
Hadzsiev, Kinga;
Duga, Balázs;
Bánfai, Zsolt;
Komlósi, Katalin;
Melegh, Béla

Publication type:

Article

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 319, doi. 10.1002/ajmg.a.38564

By:

Bateman, Mark S.;
Collinson, Morag N.;
Bunyan, David J.;
Collins, Amanda L.;
Duncan, Philippa;
Firth, Rachel;
Harrison, Victoria;
Homfray, Tessa;
Huang, Shuwen;
Kirk, Beth;
Lachlan, Katherine L.;
Maloney, Viv K.;
Barber, John C. K.

Publication type:

Article

Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 386, doi. 10.1002/ajmg.a.38563

By:

Dang Do, An N.;
Baker, Eva H.;
Warren, Katherine E.;
Bianconi, Simona E.;
Porter, Forbes D.

Publication type:

Article

Expanding the phenotype associated with biallelic <italic>WDR60</italic> mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 438, doi. 10.1002/ajmg.a.38562

By:

Kakar, Naseebullah;
Horn, Denise;
Decker, Eva;
Sowada, Nadine;
Kubisch, Christian;
Ahmad, Jamil;
Borck, Guntram;
Bergmann, Carsten

Publication type:

Article

Clinical and genetic characterization of <italic>AP4B1</italic>‐associated SPG47.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 311, doi. 10.1002/ajmg.a.38561

By:

Ebrahimi‐Fakhari, Darius;
Cheng, Chi;
Dies, Kira;
Diplock, Amelia;
Pier, Danielle B.;
Ryan, Conor S.;
Lanpher, Brendan C.;
Hirst, Jennifer;
Chung, Wendy K.;
Sahin, Mustafa;
Rosser, Elisabeth;
Darras, Basil;
Bennett, James T.;
on behalf of CureSPG47

Publication type:

Article

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 426, doi. 10.1002/ajmg.a.38560

By:

Alagia, Marianna;
Cappuccio, Gerarda;
Pinelli, Michele;
Torella, Annalaura;
Brunetti‐Pierri, Raffaella;
Simonelli, Francesca;
Limongelli, Giuseppe;
Oppido, Guido;
Nigro, Vincenzo;
Brunetti‐Pierri, Nicola;
TUDP

Publication type:

Article

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 391, doi. 10.1002/ajmg.a.38559

By:

Palumbo, Pietro;
Accadia, Maria;
Leone, Maria P.;
Palladino, Teresa;
Stallone, Raffaella;
Carella, Massimo;
Palumbo, Orazio

Publication type:

Article

Novel compound heterozygous mutations in <italic>GPT2</italic> linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 421, doi. 10.1002/ajmg.a.38558

By:

Kaymakcalan, Hande;
Yarman, Yanki;
Goc, Nukte;
Toy, Fatih;
Meral, Cihan;
Ercan‐Sencicek, A. Gulhan;
Gunel, Murat

Publication type:

Article

A novel <italic>SAMD9</italic> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 415, doi. 10.1002/ajmg.a.38557

By:

Jeffries, Lauren;
Shima, Hirohito;
Ji, Weizhen;
Panisello‐Manterola, David;
McGrath, James;
Bird, Lynne M.;
Konstantino, Monica;
Narumi, Satoshi;
Lakhani, Saquib

Publication type:

Article

Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 496, doi. 10.1002/ajmg.a.38556

By:

Yamazawa, Kazuki;
Yamada, Yohei;
Kuroda, Tatsuo;
Mutai, Hideki;
Matsunaga, Tatsuo;
Komiyama, Osamu;
Takahashi, Takao

Publication type:

Article

Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 409, doi. 10.1002/ajmg.a.38554

By:

Gatto, Antonio;
Ferrara, Pietro;
Leoni, Chiara;
Onesimo, Roberta;
Zollino, Marcella;
Emma, Francesco;
Zampino, Giuseppe

Publication type:

Article

Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 492, doi. 10.1002/ajmg.a.38553

By:

van Zutven, Laura J. C. M.;
Mancini, Grazia M. S.;
Bindels‐de Heus, Karen G. C. B.;
van den Akker, Erica L. T.;
Hulsman, Lorette O. M.;
Smit, Marjan;
Berna Beverloo, H.

Publication type:

Article

Biallelic mutations in <italic>LARS2</italic> can cause Perrault syndrome type 2 with neurologic symptoms.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 404, doi. 10.1002/ajmg.a.38552

By:

Kosaki, Rika;
Horikawa, Reiko;
Fujii, Eriko;
Kosaki, Kenjiro

Publication type:

Article

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 301, doi. 10.1002/ajmg.a.38551

By:

Ficicioglu, Can;
Giugliani, Roberto;
Harmatz, Paul;
Mendelsohn, Nancy J.;
Jego, Virginie;
Parini, Rossella

Publication type:

Article

Biallelic mutations in <italic>NALCN</italic>: Expanding the genotypic and phenotypic spectra of IHPRF1.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 431, doi. 10.1002/ajmg.a.38543

By:

Takenouchi, Toshiki;
Inaba, Mie;
Uehara, Tomoko;
Takahashi, Takao;
Kosaki, Kenjiro;
Mizuno, Seiji

Publication type:

Article

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 290, doi. 10.1002/ajmg.a.38540

By:

Clarke, Christine M.;
Fok, Vincent T.;
Gustafson, Jennifer A.;
Smyth, Matthew D.;
Timms, Andrew E.;
Frazar, Chris D.;
Smith, Joshua D.;
Birgfeld, Craig B.;
Lee, Amy;
Ellenbogen, Richard G.;
Gruss, Joseph S.;
Hopper, Richard A.;
Cunningham, Michael L.

Publication type:

Article

Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 283, doi. 10.1002/ajmg.a.38534

By:

Perez, Katia M.;
Lee, Evon B.;
Kahanda, Sachini;
Duis, Jessica;
Reyes, Monica;
Jüppner, Harald;
Shoemaker, Ashley H.

Publication type:

Article

Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 487, doi. 10.1002/ajmg.a.38532

By:

Ittleman, Benjamin R.;
Mckissick, Jasmine;
Bosanko, Katherine A.;
Ocal, Eylem;
Golinko, Michael;
Zarate, Yuri A.

Publication type:

Article

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 399, doi. 10.1002/ajmg.a.38530

By:

Nimmo, Graeme A. M.;
Ejaz, Resham;
Cordeiro, Dawn;
Kannu, Peter;
Mercimek‐Andrews, Saadet

Publication type:

Article

GTEx project maps wide range of normal human genetic variation.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 263, doi. 10.1002/ajmg.a.38426
Publication type:: Article

Publication schedule for 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 262, doi. 10.1002/ajmg.a.38425
Publication type:: Article

Table of Contents, Volume 176A, Number 2, February 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 257, doi. 10.1002/ajmg.a.38424
Publication type:: Article