Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 6

Results: 35

Cover Image, Volume 194A, Number 6, June 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63649
Publication type:
Article
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63569
By:
- Richard, Melissa A.;
- Lupo, Philip J.;
- Ehli, Erik A.;
- Sahin, Mustafa;
- Krueger, Darcy A.;
- Wu, Joyce Y.;
- Bebin, Elizabeth M.;
- Au, Kit Sing;
- Northrup, Hope;
- Farach, Laura S.
Publication type:
Article
Monodactyly in a patient with CHARGE syndrome: An additional case report.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63561
By:
- Serigatto, Henrique Regonaschi;
- Zechi‐Ceide, Roseli Maria;
- Parizotto, Isabella;
- Kokitsu‐Nakata, Nancy Mizue
Publication type:
Article
Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63565
By:
- Yanes, Tatiane;
- Blencoe, Marisa;
- Howard, Antonia;
- Tiller, Jane;
- Wallingford, Courtney;
- Otlowski, Margaret;
- Keogh, Louise;
- Lacaze, Paul;
- McInerney‐Leo, Aideen
Publication type:
Article
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63563
By:
- Duman, Duygu;
- Ramzan, Memoona;
- Subasioglu, Asli;
- Mutlu, Ahmet;
- Peart, LéShon;
- Seyhan, Serhat;
- Guo, Shengru;
- Ila, Kadri;
- Balta, Burhan;
- Kalcioglu, Mahmut Tayyar;
- Bademci, Guney;
- Tekin, Mustafa
Publication type:
Article
EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63556
By:
- Forghani, Irman;
- Lang, Steven H.;
- Rodier, Matthew J.;
- Bivona, Stephanie A.;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim
Publication type:
Article
A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63553
By:
- Siracusano, Martina;
- Dante, Caterina;
- Sarnataro, Rachele;
- Arturi, Lucrezia;
- Riccioni, Assia;
- Carloni, Elisa;
- Cicala, Mariagrazia;
- Gialloreti, Leonardo Emberti;
- Galasso, Cinzia;
- Conteduca, Giuseppina;
- Coviello, Domenico;
- Mazzone, Luigi
Publication type:
Article
A case report on deficiency of adenosine deaminase 2 with relapse–remission course and analysis of genotype–phenotype correlation.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63568
By:
- Cai, Qianyun;
- Feng, Fan;
- Tian, Yanmei;
- Luo, Rong;
- Mu, Dezhi;
- Yang, Fan;
- Yang, Zuozhen;
- Zhou, Zhongjie
Publication type:
Article
Erratum to "De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities".
Published in:
2024
Publication type:
Correction Notice
Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63557
By:
- Rattanapornsompong, Khanti;
- Chetruengchai, Wanna;
- Srichomthong, Chalurmpon;
- Theerapanon, Thanakorn;
- Porntaveetus, Thantrira;
- Shotelersuk, Vorasuk
Publication type:
Article
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63562
By:
- Uchida, Noboru;
- Ishii, Tomohiro;
- Nishimura, Gen;
- Sato, Takeshi;
- Kuratsuji, Gen;
- Nagasaki, Keisuke;
- Hosokawa, Yuki;
- Adachi, Eriko;
- Takasawa, Kei;
- Kashimada, Kenichi;
- Tsujioka, Yuko;
- Hasegawa, Tomonobu
Publication type:
Article
Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63555
By:
- Politano, Davide;
- D'Abrusco, Fulvio;
- Pasca, Ludovica;
- Ferraro, Francesca;
- Gana, Simone;
- Garau, Jessica;
- Zanaboni, Martina Paola;
- Rognone, Elisa;
- Pichiecchio, Anna;
- Borgatti, Renato;
- Valente, Enza Maria;
- De Giorgis, Valentina;
- Romaniello, Romina
Publication type:
Article
First‐trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP‐based amplicon sequencing: An earlier, rapid and safer way.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63560
By:
- Fu, Xinyu;
- Zhao, Zhenhua;
- Kong, Lingrong;
- Li, Shaojun;
- Li, Feifei;
- Han, Xiujuan;
- Sun, Luming;
- Wu, Di;
- Wang, Yanan;
- Kong, Xiangdong
Publication type:
Article
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63551
By:
- De Bortoli, Martina;
- Ivars, Marta;
- Revencu, Nicole;
- Nassogne, Marie‐Cécile;
- Lavarino, Cinzia;
- Paco, Sonia;
- Lammens, Martin;
- Renders, Anne;
- Dumitriu, Dana;
- Helaers, Raphaël;
- Boon, Laurence M.;
- Baselga, Eulalia;
- Vikkula, Miikka
Publication type:
Article
PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63550
By:
- Bach, Michal Yacobi;
- Miron, Sivan Reytan;
- Kurolap, Alina;
- Feldman, Hagit Baris
Publication type:
Article
Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999–2018.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63549
By:
- Benjamin, Renata H.;
- Marengo, Lisa K.;
- Scheuerle, Angela E.;
- Agopian, A. J.;
- Mitchell, Laura E.
Publication type:
Article
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63548
By:
- Hejla, Duha;
- Huynh, Stephanie;
- Samra, Simran;
- Richmond, Phillip A.;
- Dalmann, Joshua;
- Del Bel, Kate L.;
- Byres, Loryn;
- Lehman, Anna;
- Turvey, Stuart E.;
- Boerkoel, Cornelius F.
Publication type:
Article
Epilepsy in Legius syndrome: Coincidence or causation?
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63547
By:
- Medina Lemus, Adalbeis;
- Boelman, Cyrus;
- Myers, Kenneth A.
Publication type:
Article
Feeding tube use and complications in Prader‐Willi syndrome: Data from the Global Prader‐Willi Syndrome Registry.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63546
By:
- Roy, Sani M.;
- Rafferty, Deborah;
- Trejo, Amy;
- Hamilton, Luke;
- Bohonowych, Jessica E.;
- Strong, Theresa V.;
- Ambartsumyan, Lusine;
- Cantu, Samson;
- Scheimann, Ann;
- Duis, Jessica
Publication type:
Article
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63545
By:
- Burgac, Ezgi;
- Kaplan, İrem;
- Köseci, Burcu;
- Kara, Esra;
- Kor, Deniz;
- Bulut, Fatma Derya;
- Atmış, Anıl;
- Pişkin, Ferhatcan;
- Tuğ Bozdoğan, Sevcan;
- Urel Demir, Gizem;
- İncecik, Faruk;
- Önenli Mungan, Neslihan
Publication type:
Article
Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63544
By:
- Migliavacca, Michele P.;
- Sobreira, Joselito;
- Bermeo, Diana;
- Gomes, Mireille;
- Alencar, Dayse;
- Sussuchi, Luciane;
- Souza, Camila Alves;
- Silva, Juliana Santos;
- Kroll, José Eduardo;
- Burger, Matheus;
- Guarischi‐Sousa, Rodrigo;
- Villela, Darine;
- Yamamoto, Guilherme L.;
- Milanezi, Fernanda;
- Horigoshi, Nelson;
- Cesar, Regina Grigolli;
- de Carvalho, Werther Brunow;
- Honjo, Rachel Sayuri;
- Bertola, Debora Romeo;
- Kim, Chong Ae
Publication type:
Article
The impact of a virtual mind–body program on symptoms of depression and anxiety among international English‐speaking adults with neurofibromatosis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63543
By:
- McDermott, Katherine;
- Bakhshaie, Jafar;
- Brewer, Julie;
- Vranceanu, Ana‐Maria
Publication type:
Article
Understanding chronic pain in Neurofibromatosis Type 1 using the Neurofibromatosis Pain Module (NFPM).
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63541
By:
- Buono, Frank D.;
- Larkin, Kaitlyn;
- Zempsky, William T.;
- Grau, Lauretta E.;
- Martin, Staci
Publication type:
Article
ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening the phenotype with 17 additional individuals.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63540
By:
- Schrier Vergano, Samantha A.
Publication type:
Article
X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63536
By:
- Esquiaveto‐Aun, Adriana Mangue;
- de Mello, Maricilda Palandi;
- Guaragna, Mara Sanches;
- da Silva Lopes, Vera Lúcia Gil;
- Francese‐Santos, Ana Paula;
- dos Santos Cruz Piveta, Cristiane;
- Mazolla, Taís Nitsh;
- de Lemos‐Marini, Sofia Helena Valente;
- Guerra‐Junior, Gil
Publication type:
Article
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
By:
- Romano, Ferruccio;
- Haanpää, Maria K.;
- Pomianowski, Pawel;
- Peraino, Amanda Rose;
- Pollard, John R.;
- Di Feo, Maria Francesca;
- Traverso, Monica;
- Severino, Mariasavina;
- Derchi, Maria;
- Henzen, Edoardo;
- Zara, Federico;
- Faravelli, Francesca;
- Capra, Valeria;
- Scala, Marcello
Publication type:
Article
Table of Contents, Volume 194A, Number 6, June 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63528
By:
- Meier‐Abt, Fabienne;
- Kraemer, Dennis;
- Braun, Nils;
- Reinehr, Michael;
- Stutz‐Grunder, Eveline;
- Steindl, Katharina;
- Rauch, Anita
Publication type:
Article
Personal journeys to and in human genetics and dysmorphology.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
By:
- Schwartz, Charles E.;
- Aylsworth, Arthur S.;
- Allanson, Judith;
- Battaglia, Agatino;
- Carey, John C.;
- Curry, Cynthia J.;
- Davies, Kay E.;
- Eichler, Evan E.;
- Graham, John M.;
- Hall, Bryan;
- Hall, Judith G.;
- Holmes, Lewis B.;
- Hoyme, H. Eugene;
- Hunter, Alasdair;
- Innis, Jeffrey;
- Johnson, John;
- Keppler‐Noreuil, Kim M.;
- Leroy, Jules G.;
- Moore, Cynthia;
- Nelson, David L.
Publication type:
Article
Corrigendum to "Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome".
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63497
Publication type:
Article
Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63496
By:
- Lee, Stephanie G.;
- Evans, Gareth;
- Stephen, Maddie;
- Goren, Rachel;
- Bondy, Melissa;
- Goodman, Steven
Publication type:
Article
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63533
By:
- Akinci, Gulcin;
- Alyaarubi, Saif;
- Patni, Nivedita;
- Alhashmi, Nadia;
- Al‐Shidhani, Azza;
- Prodam, Flavia;
- Gagne, Nancy;
- Babalola, Funmbi;
- Al Senani, Aisha;
- Muniraj, Kavitha;
- Elsayed, Solaf M.;
- Beghini, Marianna;
- Saydam, Basak Ozgen;
- Allawati, Moosa;
- Vaishnav, Madhumati S.;
- Can, Ender;
- Simsir, Ilgin Y.;
- Sorkina, Ekaterina;
- Dursun, Fatma;
- Kamrath, Clemens
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63274
Publication type:
Article
Decoding and Modeling the Human Immune System.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63273
Publication type:
Article
Katherine M. Hyland, PhD.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63272
Publication type:
Article