Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 10

Results: 40

Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3063, doi. 10.1002/ajmg.a.62958
By:
- Mubungu, Gerrye;
- Roelants, Mathieu;
- Lumaka, Aimé;
- Makay, Prince;
- Tshika, Dahlie;
- Lubala, Toni;
- Tshilobo Lukusa, Prosper;
- Devriendt, Koenraad
Publication type:
Article
Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2888, doi. 10.1002/ajmg.a.62947
By:
- Wang, Qiwei;
- Qin, Tingfeng;
- Tan, Haowen;
- Ding, Xiaoyan;
- Lin, Xiaoshan;
- Li, Jing;
- Lin, Zhuolin;
- Sun, Limei;
- Lin, Haotian;
- Chen, Weirong
Publication type:
Article
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2976, doi. 10.1002/ajmg.a.62944
By:
- Usluer, Esra;
- Sayın, Gözde Yeşil;
- Güneş, Nilay;
- Kasap, Buşra;
- Tüysüz, Beyhan
Publication type:
Article
Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3110, doi. 10.1002/ajmg.a.62943
By:
- Rabin, Rachel;
- Hirsch, Yoel;
- Chung, Wendy K.;
- Ekstein, Josef;
- Levy‐Lahad, Ephrat;
- Zuckerman, Shachar;
- Mor‐Shaked, Hagar;
- Meiner, Vardiella;
- Booth, Kevin T.;
- Pappas, John
Publication type:
Article
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3089, doi. 10.1002/ajmg.a.62942
By:
- Gazzaz, Nour;
- Frost, F. Graeme;
- Alderman, Emily;
- Richmond, Phillip A.;
- Dalmann, Joshua;
- Lin, Susan;
- Salman, Areesha;
- Del Bel, Kate L.;
- Lehman, Anna;
- Turvey, Stuart E.;
- Boerkoel, Cornelius F.;
- Cherukuri, Praveen F.
Publication type:
Article
A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3078, doi. 10.1002/ajmg.a.62939
By:
- Özer, Leyla;
- Aktuna, Suleyman;
- Unsal, Evrim;
- Ünal, Mehmet Altay;
- Sahin, Guler;
- Baltaci, Volkan
Publication type:
Article
Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3126, doi. 10.1002/ajmg.a.62937
By:
- Geddes, Gabrielle C.;
- Hafezi, Niloufar;
- Gray, Brian W.
Publication type:
Article
A novel variant in GNPNAT1 gene causing a spondylo‐epi‐metaphyseal dysplasia resembling PGM3—Desbuquois like dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2861, doi. 10.1002/ajmg.a.62933
By:
- Elhossini, Rasha Moheb;
- Ahmed, Hoda Abdalla;
- Otaify, Ghada;
- Ghorab, Raghda M.;
- Amr, Khalda;
- Aglan, Mona
Publication type:
Article
EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3106, doi. 10.1002/ajmg.a.62932
By:
- Vogt, Lindsey M.;
- Lorenzo, Melissa;
- B. Prendergast, D'Arcy;
- Jobling, Rebekah;
- Gill, Peter J.
Publication type:
Article
Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3009, doi. 10.1002/ajmg.a.62931
By:
- Sheerin, Una‐Marie;
- Holmes, Paul;
- Childs, Lucy;
- Roy, Amit;
- Ferner, Rosalie E.
Publication type:
Article
Carnitine deficiency, hearing loss and hydrochlorothiazide‐induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3139, doi. 10.1002/ajmg.a.62927
By:
- Mattman, Andre;
- Masoudi, Raha;
- Stockler‐Ipsiroglu, Sylvia;
- Zivkovic, Irena;
- Lehman, Anna;
- Dionne, Janis M.
Publication type:
Article
MT‐TA pathogenic variants may cause developmental and epileptic encephalopathy without myopathy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3135, doi. 10.1002/ajmg.a.62925
By:
- Sahly, Ahmed N.;
- Buhas, Daniela;
- Myers, Kenneth A.
Publication type:
Article
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2879, doi. 10.1002/ajmg.a.62924
By:
- Mohamad, Janan;
- Samuelov, Liat;
- Assaf, Sari;
- Malki, Liron;
- Malovitski, Kiril;
- Meijers, Odile;
- Adir, Noam;
- Granot, Ester;
- Pavlovsky, Mor;
- Sarig, Ofer;
- Sprecher, Eli
Publication type:
Article
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3049, doi. 10.1002/ajmg.a.62922
By:
- Santoro, Stephanie L.;
- Baumer, Nicole T.;
- Cornacchia, Michelle;
- Franklin, Catherine;
- Hart, Sarah J.;
- Haugen, Kelsey;
- Hojlo, Margaret A.;
- Horick, Nora;
- Kishnani, Priya S.;
- Krell, Kavita;
- McCormick, Andrew;
- Milliken, Anna L.;
- Oreskovic, Nicolas M.;
- Pawlowski, Katherine G.;
- Sargado, Sabrina;
- Torres, Amy;
- Valentini, Diletta;
- Vellody, Kishore;
- Skotko, Brian G.
Publication type:
Article
Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3016, doi. 10.1002/ajmg.a.62905
By:
- Steinle, Jacob;
- Hossain, Waheeda A.;
- Veatch, Olivia J.;
- Strom, Samuel P.;
- Butler, Merlin G.
Publication type:
Article
WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3071, doi. 10.1002/ajmg.a.62903
By:
- Walczak‐Sztulpa, Joanna;
- Wawrocka, Anna;
- Sikora, Weronika;
- Pawlak, Marta;
- Bukowska‐Olech, Ewelina;
- Kopaczewski, Bartłomiej;
- Urzykowska, Agnieszka;
- Arts, Heleen H.;
- Gotz‐Więckowska, Anna;
- Grenda, Ryszard;
- Latos‐Bieleńska, Anna;
- Glazar, Renata
Publication type:
Article
Sleep disturbance is a common feature of Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3041, doi. 10.1002/ajmg.a.62921
By:
- Rapp, Tyler;
- Kalinousky, Allison J.;
- Johnson, Jennifer;
- Bjornsson, Hans;
- Harris, Jacqueline
Publication type:
Article
Neurodevelopmental functioning in probands and non‐proband carriers of 22q11.2 microduplication.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2999, doi. 10.1002/ajmg.a.62916
By:
- Drmic, Irene E.;
- MacKinnon Modi, Bonnie;
- McConnell, Beth;
- Jilderda, Sanne;
- Hoang, Ny;
- Noor, Abdul;
- Bassett, Anne S.;
- Speevak, Marsha;
- Stavropoulos, Dimitri J.;
- Carter, Melissa T.
Publication type:
Article
An additional patient with SMAD4‐Juvenile Polyposis‐Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss‐of‐function and gain‐of‐function pathogenic variants result in contrasting phenotypes
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3084, doi. 10.1002/ajmg.a.62915
By:
- Gheewalla, Gregory M.;
- Luther, Jay;
- Das, Saumya;
- Kreher, Jeffrey B.;
- Scimone, Eleanor R.;
- Wong, Ashley W.;
- Lindsay, Mark E.;
- Lin, Angela E.
Publication type:
Article
Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2920, doi. 10.1002/ajmg.a.62906
By:
- Macchiaiolo, Marina;
- Panfili, Filippo M.;
- Vecchio, Davide;
- Cortellessa, Fabiana;
- Gonfiantini, Michaela V.;
- Buonuomo, Paola S.;
- Pietrobattista, Andrea;
- Francalanci, Paola;
- Travaglini, Lorena;
- Bertini, Enrico S.;
- El Hachem, Maya;
- Bartuli, Andrea
Publication type:
Article
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2958, doi. 10.1002/ajmg.a.62919
By:
- Hardcastle, Amy;
- Berry, Aliska M.;
- Campbell, Ian M.;
- Zhao, Xiaonan;
- Liu, Pengfei;
- Gerard, Amanda E.;
- Rosenfeld, Jill A.;
- Sisoudiya, Saumya D.;
- Hernandez‐Garcia, Andres;
- Loddo, Sara;
- Di Tommaso, Silvia;
- Novelli, Antonio;
- Dentici, Maria L.;
- Capolino, Rossella;
- Digilio, Maria C.;
- Graziani, Ludovico;
- Rustad, Cecilie F.;
- Neas, Katherine;
- Ferrero, Giovanni B.;
- Brusco, Alfredo
Publication type:
Article
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2869, doi. 10.1002/ajmg.a.62918
By:
- Al‐Ali, Samir;
- Jeffries, Lauren;
- Faustino, E. Vincent S.;
- Ji, Weizhen;
- Mis, Emily;
- Konstantino, Monica;
- Zerillo, Cynthia;
- Jiang, Yong‐hui;
- Spencer‐Manzon, Michele;
- Bale, Allen;
- Zhang, Hui;
- McGlynn, Julie;
- McGrath, James M.;
- Tremblay, Thierry;
- Brodsky, Nina N.;
- Lucas, Carrie L.;
- Pierce, Richard;
- Deniz, Engin;
- Khokha, Mustafa K.;
- Lakhani, Saquib A.
Publication type:
Article
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2988, doi. 10.1002/ajmg.a.62913
By:
- Cooley Coleman, Jessica A.;
- Fee, Timothy;
- Bend, Renee;
- Louie, Raymond;
- Annese, Fran;
- Stallworth, Jennifer;
- Worthington, Jessica;
- Buchanan, Caroline Black;
- Everman, David B.;
- Skinner, Steven;
- Friez, Michael J.;
- Jones, Julie R.;
- Spellicy, Catherine J.
Publication type:
Article
Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3121, doi. 10.1002/ajmg.a.62908
By:
- Roberts, Maegan E.;
- Nimrichter, Sarah;
- Marshall, Megan L.;
- Flynn, Elizabeth K.;
- Person, Rick;
- Hruska, Kathleen S.;
- Kruszka, Paul;
- Juusola, Jane
Publication type:
Article
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3130, doi. 10.1002/ajmg.a.62907
By:
- Kuroda, Yukiko;
- Ritter, Alyssa;
- Mullegama, Sureni V.;
- Izumi, Kosuke
Publication type:
Article
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3024, doi. 10.1002/ajmg.a.62912
By:
- Ye, Yutian;
- Huang, Qijun;
- Chen, Lipeng;
- Yuan, Fang;
- Liu, Shengguo;
- Zhang, Xiangxia;
- Chen, Rongchang;
- Fu, Yingyun;
- Yue, Yongjian
Publication type:
Article
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3032, doi. 10.1002/ajmg.a.62911
By:
- Cappuccio, Gerarda;
- De Bernardi, Margherita Lucia;
- Morlando, Alessia;
- Peduto, Cristina;
- Scala, Iris;
- Pinelli, Michele;
- Bellacchio, Emanuele;
- Gallo, Flavio Gioele;
- Magli, Adriano;
- Plaitano, Carmen;
- Serrano, Mercedes;
- Pías, Leticia;
- Català, Jaume;
- Bolasell, Mercè;
- Torella, Annalaura;
- Nigro, Vincenzo;
- Zanni, Ginevra;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2941, doi. 10.1002/ajmg.a.62910
By:
- Polgreen, Lynda E.;
- Bay, Luisa;
- Clarke, Lorne A.;
- Guffon, Nathalie;
- Jones, Simon A.;
- Muenzer, Joseph;
- Flores, Ana Lorena;
- Wilson, Kathryn;
- Viskochil, David
Publication type:
Article
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3118, doi. 10.1002/ajmg.a.62902
By:
- Spagnoli, Carlotta;
- Salerno, Grazia G.;
- Rizzi, Susanna;
- Frattini, Daniele;
- Koskenvuo, Juha;
- Fusco, Carlo
Publication type:
Article
Demographics and medical comorbidities among hospitalized patients with Prader–Willi Syndrome: A National Inpatient Sample analysis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2899, doi. 10.1002/ajmg.a.62901
Publication type:
Article
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2969, doi. 10.1002/ajmg.a.62900
By:
- Moddemann, Marina K.;
- Kieslich, Matthias;
- Koenig, Rainer
Publication type:
Article
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3100, doi. 10.1002/ajmg.a.62898
By:
- Sharova, Margarita;
- Guseva, Darya;
- Kurenkov, Alexey;
- Novoselova, Olga;
- Murtazina, Aysylu;
- Skoblov, Mikhail
Publication type:
Article
Case report of mild TCIRG1‐associated autosomal recessive osteopetrosis in Vietnam.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3096, doi. 10.1002/ajmg.a.62897
By:
- Luong, Long Hoang;
- Nguyen, Hieu Dinh;
- Trung, Tuyen Nguyen;
- Minh, Tam Mai Thi;
- Khanh, Trinh Le;
- Son, Tung Pham;
- Tran, Tien Dang;
- Nguyen, Tran Thuy
Publication type:
Article
Table of Contents, Volume 188A, Number 10 October 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2851, doi. 10.1002/ajmg.a.62319
Publication type:
Article
Growth in individuals with SATB2‐associated syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2952, doi. 10.1002/ajmg.a.62896
By:
- Zarate, Yuri A.;
- Kannan, Amrit;
- Bosanko, Katherine A.;
- Caffrey, Aisling R.
Publication type:
Article
ECHS1 deficiency and its biochemical and clinical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2908, doi. 10.1002/ajmg.a.62895
By:
- Ozlu, Can;
- Chelliah, Priya;
- Dahshi, Hamza;
- Horton, Daniel;
- Edgar, Veronica B.;
- Messahel, Souad;
- Kayani, Saima
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2860, doi. 10.1002/ajmg.a.62322
Publication type:
Article
John M. Opitz Award Honorees.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2857, doi. 10.1002/ajmg.a.62321
Publication type:
Article
Publication schedule for 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2856, doi. 10.1002/ajmg.a.62320
Publication type:
Article
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2932, doi. 10.1002/ajmg.a.62894
By:
- Altassan, Ruqaiah;
- Qudair, Ahmad;
- Alokaili, Riyadh;
- Alhasan, Khalid;
- Faqeih, Eissa A.;
- Alhashem, Amal;
- Alowain, Muhammed;
- Alsayed, Moeanaldeen;
- Rahbeeni, Zuhair;
- Albadi, Lama;
- Alkuraya, Fowzan S.;
- Anderson, Eric N.;
- Rajan, Deepa;
- Pandey, Udai Bhan
Publication type:
Article