Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 6

Results: 38

Cover Image, Volume 191A, Number 6, June 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. i, doi. 10.1002/ajmg.a.63248
Publication type:
Article
Clinical exome sequencing findings in 1589 patients.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1557, doi. 10.1002/ajmg.a.63190
By:
- Gorukmez, Ozlem;
- Gorukmez, Orhan;
- Topak, Ali
Publication type:
Article
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1632, doi. 10.1002/ajmg.a.63182
By:
- Tamura, Takeaki;
- Shimojima Yamamoto, Keiko;
- Imaizumi, Taichi;
- Yamamoto, Hisako;
- Miyamoto, Yusaku;
- Yagasaki, Hiroshi;
- Morioka, Ichiro;
- Kanno, Hitoshi;
- Yamamoto, Toshiyuki
Publication type:
Article
An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1530, doi. 10.1002/ajmg.a.63180
By:
- Yüksel Ülker, Aylin;
- Uludağ Alkaya, Dilek;
- Çağlayan, Ahmet Okay;
- Usluer, Esra;
- Aykut, Ayça;
- Aslanger, Ayça;
- Vural, Mehmet;
- Tüysüz, Beyhan
Publication type:
Article
ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1652, doi. 10.1002/ajmg.a.63189
By:
- Spencer, Careni;
- Comitis, George;
- Lawrenson, John;
- Fieggen, Karen
Publication type:
Article
Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185
By:
- Sok, Pagna;
- Sabo, Aniko;
- Almli, Lynn M.;
- Jenkins, Mary M.;
- Nembhard, Wendy N.;
- Agopian, A. J.;
- Bamshad, Michael J.;
- Blue, Elizabeth E.;
- Brody, Lawrence C.;
- Brown, Austin L.;
- Browne, Marilyn L.;
- Canfield, Mark A.;
- Carmichael, Suzan L.;
- Chong, Jessica X.;
- Dugan‐Perez, Shannon;
- Feldkamp, Marcia L.;
- Finnell, Richard H.;
- Gibbs, Richard A.;
- Kay, Denise M.;
- Lei, Yunping
Publication type:
Article
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1664, doi. 10.1002/ajmg.a.63184
By:
- Bhola, Priya T.;
- Marshall, Aren E.;
- Liang, Yijing;
- Couse, Madeline;
- Wang, Xueqi;
- Miller, Elka;
- Morel, Chantal F.;
- Boycott, Kym M.;
- Kernohan, Kristin D.
Publication type:
Article
Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1669, doi. 10.1002/ajmg.a.63183
By:
- Corona‐Rivera, Jorge Román;
- Bustos Rodríguez, Felipe de Jesús;
- Vega‐Silva, Laura Leticia;
- Hernández‐Camarena, Fernando;
- Peña‐Padilla, Christian;
- Castillo‐Reyes, Katia Alejandra;
- Cruz‐Cruz, Jessica Paola;
- Bobadilla‐Morales, Lucina;
- Corona‐Rivera, Alfredo
Publication type:
Article
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1646, doi. 10.1002/ajmg.a.63188
By:
- Baker, Elizabeth K.;
- Al Gharaibeh, Faris N.;
- Bove, Kevin;
- Calvo‐Garcia, Maria A.;
- Shillington, Amelle;
- VandenHeuvel, Katherine;
- Cortezzo, DonnaMaria E.
Publication type:
Article
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1639, doi. 10.1002/ajmg.a.63186
By:
- Le, Hong;
- Jin, Eva;
- Jewell, Ann;
- Jackson‐Cook, Colleen;
- Haskell, Gloria T.;
- Couser, Natario
Publication type:
Article
Long‐term outcomes in ALG13‐Congenital Disorder of Glycosylation.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1626, doi. 10.1002/ajmg.a.63179
By:
- Shah, Rameen;
- Johnsen, Christin;
- Pletcher, Beth A.;
- Edmondson, Andrew C.;
- Kozicz, Tamas;
- Morava, Eva
Publication type:
Article
Autosomal dominant inheritance with sex‐limited infertility.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1672, doi. 10.1002/ajmg.a.63178
By:
- Daum, Hagit;
- Zlotogora, Joël
Publication type:
Article
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1619, doi. 10.1002/ajmg.a.63177
By:
- Corriveau, Melina L.;
- Amaya, Sabrina I.;
- Koebel, Mary Clare;
- Lerma, Vanesa C.;
- Michener, Sydney L.;
- Turner, Alicia;
- Schultz, Rebecca J.;
- Seto, Elaine S.;
- Diaz‐Medina, Gloria E.;
- Craigen, William J.;
- Swann, John W.;
- Xue, Mingshan;
- Chao, Hsiao‐Tuan
Publication type:
Article
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1614, doi. 10.1002/ajmg.a.63176
By:
- Kashima, Daniel T.;
- Sloan‐Heggen, Christina M.;
- Gottlieb‐Smith, Rachel J.;
- Barone Pritchard, Amanda
Publication type:
Article
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1607, doi. 10.1002/ajmg.a.63175
By:
- Oh, Rachel Youjin;
- Chun, Kathy;
- Kowalski, Paul E.;
- Chitayat, David
Publication type:
Article
Predicting factors of neurodevelopmental performance in children with phenylketonuria.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1525, doi. 10.1002/ajmg.a.63174
By:
- Azevedo Soares, Célia;
- Ferreira Almeida, Manuela;
- Soares, Gabriela;
- Tkachenko, Natália;
- Fortuna, Ana Maria;
- Carmona, Carla
Publication type:
Article
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1658, doi. 10.1002/ajmg.a.63173
By:
- Royer‐Bertrand, Beryl;
- Lebon, Sébastien;
- Craig, Ailsa;
- Maeder, Johanna;
- Mittaz‐Crettol, Laureane;
- Fodstad, Heidi;
- Superti‐Furga, Andrea;
- Good, Jean‐Marc
Publication type:
Article
Before diagnosing a stroke‐like episode, a stroke‐like lesion must be documented on multimodal cerebral MRI.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1677, doi. 10.1002/ajmg.a.63172
By:
- Finsterer, Josef;
- Mehri, Sounira
Publication type:
Article
High‐depth next‐generation sequencing panel testing in the evaluation of arteriovenous malformations.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1518, doi. 10.1002/ajmg.a.63171
By:
- Hernandez, Patricia V.;
- King, Katherine A.;
- Evenson, Michael J.;
- Corliss, Meagan M.;
- Schroeder, Molly C.;
- Heusel, Jonathan W.;
- Neidich, Julie A.;
- Cao, Yang
Publication type:
Article
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1599, doi. 10.1002/ajmg.a.63170
By:
- Kiss, Sharmila;
- Christodoulou, John;
- Thorburn, David R.;
- Freeman, Jeremy L.;
- Kornberg, Andrew J.;
- Mandelstam, Simone;
- Compton, Alison G.;
- Cummings, Beryl;
- Pais, Lynn;
- Yaplito‐Lee, Joy;
- White, Susan M.
Publication type:
Article
Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic‐restrictive cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1508, doi. 10.1002/ajmg.a.63169
By:
- Gaudreault, Nathalie;
- Ruel, Louis‐Jacques;
- Henry, Cyndi;
- Schleit, Jennifer;
- Lagüe, Patrick;
- Champagne, Jean;
- Sénéchal, Mario;
- Sarrazin, Jean‐François;
- Philippon, François;
- Bossé, Yohan;
- Steinberg, Christian
Publication type:
Article
Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers‐Danlos syndrome at the University of Miami.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1502, doi. 10.1002/ajmg.a.63168
By:
- Pietri‐Toro, Jariselle M.;
- Gardner, Olivia K.;
- Leuchter, Jessica D.;
- DiBartolomeo, Gabrielle;
- Hunter, Juanita A.;
- Forghani, Irman
Publication type:
Article
NOTCH1 loss of the TAD and PEST domain: An antimorph?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1593, doi. 10.1002/ajmg.a.63167
By:
- Boerkoel, Pierre;
- Huynh, Stephanie;
- Yang, Gui Xiang;
- Boerkoel, Cornelius F.;
- Patel, Millan S.;
- Lehman, Anna;
- Terry, Jefferson;
- Elbert, Adrienne
Publication type:
Article
Whither social media and clinical genetics?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1489, doi. 10.1002/ajmg.a.63166
By:
- Gunter, Chris;
- Solomon, Benjamin D.
Publication type:
Article
Correction to "Vestibular and audiological findings in the Alport syndrome".
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1679, doi. 10.1002/ajmg.a.63165
Publication type:
Article
Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1586, doi. 10.1002/ajmg.a.63164
By:
- Conti, Beatrice;
- Rinaldi, Berardo;
- Rimoldi, Martina;
- Villa, Roberta;
- Iascone, Maria;
- Gangi, Silvana;
- Porro, Matteo;
- Ajmone, Paola Francesca;
- Colli, Anna Maria;
- Mosca, Fabio;
- Bedeschi, Maria Francesca
Publication type:
Article
Bisphosphonate treatment at spondylo‐ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1581, doi. 10.1002/ajmg.a.63163
By:
- Buyukyilmaz, Gonul;
- Adiguzel, Keziban Toksoy;
- Kılıc, Esra
Publication type:
Article
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1576, doi. 10.1002/ajmg.a.63162
By:
- Tamma, Poornima L.;
- Streff, Haley;
- Murali, Chaya N.
Publication type:
Article
Autosomal dominant inheritance with sex‐limited manifestation: The jury is still out.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1675, doi. 10.1002/ajmg.a.63161
By:
- Morrison, Patrick J.
Publication type:
Article
Behold the appearance of the seemingly "absent" fibula: Reconsidering the taxonomy of congenital limb anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1656, doi. 10.1002/ajmg.a.63160
By:
- Hootnick, David R.
Publication type:
Article
MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1492, doi. 10.1002/ajmg.a.63159
By:
- Tise, Christina G.;
- Verscaj, Courtney P.;
- Mendelsohn, Bryce A.;
- Woods, Jeremy;
- Lee, Chung U.;
- Enns, Gregory M.;
- Stander, Zinandré;
- Hall, Patricia L.;
- Cowan, Tina M.;
- Cusmano‐Ozog, Kristina P.
Publication type:
Article
Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1570, doi. 10.1002/ajmg.a.63158
By:
- Albokhari, Daniah;
- Bailey, Christopher R.;
- Hwang, Francis;
- Weiss, Clifford R.;
- Forsberg, Jonathan;
- Sobreira, Nara
Publication type:
Article
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1565, doi. 10.1002/ajmg.a.63157
By:
- Graziani, Ludovico;
- Cinnirella, Giacomo;
- Ferradini, Valentina;
- Conte, Chiara;
- Bascio, Federica Lo;
- Bengala, Mario;
- Sangiuolo, Federica;
- Novelli, Giuseppe
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1488, doi. 10.1002/ajmg.a.62812
Publication type:
Article
Fertility Clinic Sued for Implanting Embryo Carrying Cancer Gene.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1486, doi. 10.1002/ajmg.a.62811
Publication type:
Article
Promising Results with Direct‐to‐Brain Gene Therapy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1485, doi. 10.1002/ajmg.a.62810
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1484, doi. 10.1002/ajmg.a.62809
Publication type:
Article
Table of Contents, Volume 191A, Number 6, June 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1479, doi. 10.1002/ajmg.a.62808
Publication type:
Article