Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 10

Results: 36

Table of Contents, Volume 194A, Number 10, October 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
Cover Image, Volume 194A, Number 10, October 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63879
Publication type:
Article
Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63788
By:
- Mochizuki, Aaron Y.;
- Nagaraj, Chinmayee B.;
- Depoorter, Douglas;
- Schieffer, Kathleen M.;
- Kim, Sun Young
Publication type:
Article
Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63785
By:
- Akalın, Akçahan;
- Ayaz, Ercan;
- Soğukpınar, Merve;
- Avcı‐Durmuşalioğlu, Enise;
- Ürel‐Demir, Gizem;
- Yıldız, Adalet Elçin;
- Atik, Tahir;
- Elcioglu, Nursel H.;
- Eda Utine, Gulen;
- Şimşek‐Kiper, Pelin Özlem
Publication type:
Article
A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63783
By:
- Jennions, E.;
- Olsson‐Engman, M.;
- Visuttijai, K.;
- Wiksell, Å.;
- Fluriach Dominguez, N.;
- Kollberg, G.;
- Oldfors, A.;
- Hedberg‐Oldfors, C.
Publication type:
Article
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63782
By:
- Taşdelen, Elifcan;
- Sezer, Abdullah;
- An, Isa
Publication type:
Article
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63780
By:
- Wang, Leonard Kuan‐Pei;
- Shanmugasundaram, Manjushree;
- Cooney, Erin;
- Lee, Phillip D. K.
Publication type:
Article
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63779
By:
- Wade, Emma M.;
- Morgan, Tim;
- Gimenez, Gregory;
- Jenkins, Zandra A.;
- Titheradge, Hannah;
- O'Donnell, Marie;
- Skidmore, David;
- Suri, Mohnish;
- Robertson, Stephen P.
Publication type:
Article
Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63778
By:
- Owlett, Laura D.;
- Zapanta, Bianca;
- Sandkuhler, Sarah E.;
- Ames, Elizabeth G.;
- Hickey, Scott E.;
- Mackenzie, Samuel J.;
- Meisner, Joshua K.
Publication type:
Article
Expanded phenotype and cancer risk in patients with Beckwith–Wiedemann spectrum caused by CDKN1C variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63777
By:
- George, Andrew M.;
- Viswanathan, Aravind;
- Best, Lyle G.;
- Monahan, Caitlin;
- Limmina, Maria;
- Ganguly, Arupa;
- Kalish, Jennifer M.
Publication type:
Article
Noonan syndrome and type 1 Chiari malformation: Possible association.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63776
By:
- Samuels, Megan;
- Northrup, Hope
Publication type:
Article
A milder form of NSRP1‐associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63727
By:
- Neuens, Sebastian;
- Kausar, Maiza;
- Kang, Sun‐Kyoung;
- Soblet, Julie;
- Van Dooren, Sonia;
- Olsen, Catharina;
- Janssen, Toon;
- Caljon, Ben;
- Jun, Chang‐Duk;
- Smits, Guillaume;
- Coppens, Sandra;
- Vilain, Catheline
Publication type:
Article
Biallelic loss‐of‐function variants of EZH1 cause a novel developmental disorder with central precocious puberty.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63726
By:
- Okamoto, Nobuhiko;
- Yoshida, Sayaka;
- Ogitani, Ayako;
- Etani, Yuri;
- Yanagi, Kumiko;
- Kaname, Tadashi
Publication type:
Article
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63725
By:
- Abbott, Megan;
- Angione, Katie;
- Forbes, Emily;
- Stoecker, Mikayla;
- Saenz, Margarita;
- Neul, Jeffrey L.;
- Marsh, Eric D.;
- Skinner, Steven A.;
- Percy, Alan K.;
- Benke, Tim A.
Publication type:
Article
Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader–Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63724
By:
- Schmok, Tiffany;
- Surampalli, Abhilasha;
- Khare, Manaswitha;
- Zandihaghighi, Setarah;
- Baghbaninogourani, Rounak;
- Patolia, Brinda;
- Gold, June‐Anne;
- Naidu, Ajanta;
- Cassidy, Suzanne B.;
- Kimonis, Virginia E.
Publication type:
Article
LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63723
By:
- Gana, Simone;
- Di Biagio, Marta;
- Carraro, Laura;
- Rossetto, Gloria;
- Scarpelli, Laura;
- Scognamillo, Ilaria;
- Valente, Enza Maria;
- Signorini, Sabrina
Publication type:
Article
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63722
By:
- Tellerday, Jack;
- Black, Jennifer;
- Schuessler, Donald C.;
- Dosa, Nienke P.;
- Alcaraz, Wendy;
- Lebel, Robert Roger
Publication type:
Article
NANS‐CDG: Expanding clinical insights with a novel patient with novel variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63721
By:
- Yoo, Sukdong;
- Cheon, Chong Kun
Publication type:
Article
Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63720
By:
- Zhai, Yi;
- Ballios, Brian G.
Publication type:
Article
Expansion of the prenatal phenotype of Baraitser–Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63719
By:
- Burrill, Natalie;
- Crane, Haley;
- Khalek, Nahla;
- Soni, Shelly;
- Wild, K. Taylor;
- Skraban, Cara;
- McManus, Morgan;
- Szigety, Katherine;
- Oliver, Edward R.;
- Partridge, Emily;
- Agarwal, Sonika;
- Fisher, Allan;
- Wang, Jing;
- Moldenhauer, Julie S.
Publication type:
Article
Dandy–Walker malformation in an individual with ABL1 variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63718
By:
- Garzon, Jenny P.;
- Pardo, Andrea C.;
- Raski, Carolyn R.;
- Prada, Carlos E.
Publication type:
Article
Long‐term clinical observation of patients with heterozygous KIF1A variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63656
By:
- Kawashima, Aritomo;
- Kodama, Kaori;
- Okubo, Yukimune;
- Endo, Wakaba;
- Inui, Takehiko;
- Ikeda, Miki;
- Katata, Yu;
- Togashi, Noriko;
- Ohba, Chihiro;
- Imagawa, Eri;
- Iwama, Kazuhiro;
- Mizuguchi, Takeshi;
- Kitami, Masahiro;
- Aihara, Yu;
- Takayama, Jun;
- Tamiya, Gen;
- Kikuchi, Atsuo;
- Kure, Shigeo;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi
Publication type:
Article
A rare case of uncharacterized autoinflammatory disease: Patient carrying variations in NLRP3 and TNFRSF1A genes.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63715
By:
- Kilinc, Ozgur Can;
- Gayibova, Konul;
- Onen, Merve Ozkilinc;
- Onat, Umut Inci;
- Bülbül, Alper;
- Timucin, Ahmet Can;
- Ugurlu, Serdal;
- Turanli, Eda Tahir
Publication type:
Article
Classification of isolated versus multiple birth defects: An automated process for population‐based registries.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63714
By:
- Benjamin, Renata H.;
- Nguyen, Joanne M.;
- Drummond‐Borg, Margaret;
- Scheuerle, Angela E.;
- Langlois, Peter H.;
- Canfield, Mark A.;
- Shumate, Charles J.;
- Mitchell, Laura E.;
- Agopian, A. J.
Publication type:
Article
Large regions of homozygosity in prenatal diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63712
By:
- Ma, Di;
- Ye, Mei;
- Hu, Wenlong;
- Gao, Hui;
- Wang, Lijuan;
- Song, Yaqin;
- Nie, Rui;
- Hu, Zhiyang;
- Guo, Hui
Publication type:
Article
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63709
By:
- Abu‐El‐Haija, Aya;
- Dillahunt, Kyle;
- Safina, Nicole;
- Aldeeri, Abdulrahman;
- Glavan, Tomislav;
- Mihalek, Ivana;
- Shinawi, Marwan
Publication type:
Article
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63716
By:
- Chacon‐Camacho, Oscar Francisco;
- Ordaz‐Robles, Thania;
- Cid‐García, Marion Aline;
- Hofmann‐Blancas, María Enriqueta;
- Ledesma‐Gil, Jasbeth;
- García‐Huerta, María Magdalena;
- Prado‐Larrea, Carolina;
- Cortés‐González, Vianney;
- Lozano‐Garza, Rodrigo Isaac;
- García‐Vega, Daphne;
- Kim, JiHye;
- Khang, Rin;
- Lee, Eugene;
- Zenteno, Juan Carlos
Publication type:
Article
Expanding the phenotype of Harel‐Yoon syndrome: A case report suggesting a genotype/phenotype correlation.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63647
By:
- Abdul‐Raheem, Jareatha;
- Nikkola, Elina;
- Chen, Zhenbin;
- Rohena, Luis
Publication type:
Article
Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63640
By:
- Kokitsu‐Nakata, Nancy Mizue;
- Segarra, Vinicius Contrucci Dantas;
- Tonello, Cristiano;
- Brandão, Michele Madeira;
- Alonso, Nivaldo;
- Zechi‐Ceide, Roseli Maria
Publication type:
Article
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023).
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63638
By:
- Lin, Angela E.;
- Scimone, Eleanor R.;
- Thom, Robyn P.;
- Balaguru, Duraisamy;
- Kinane, T. Bernard;
- Moschovis, Peter P.;
- Cohen, Michael S.;
- Tan, Weizhen;
- Hague, Cole D.;
- Dannheim, Katelyn;
- Levitsky, Lynne L.;
- Lilly, Evelyn;
- DiGiacomo, Daniel V.;
- Masse, Kara M.;
- Kadzielski, Sarah M.;
- Zar‐Kessler, Claire A.;
- Ginns, Leo C.;
- Neumeyer, Ann M.;
- Colvin, Mary K.;
- Elder, Jack S.
Publication type:
Article
Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63605
By:
- van Weelden, Wenneke;
- Bleeker, Fonnet E.;
- van Stijn, Diana;
- Micha, Dimitra;
- Maugeri, Alessandra;
- Kuijpers, Taco W.;
- Koch, Arjun D.;
- Aalfs, Cora M.;
- Wagner, Anja;
- Groenink, Maarten;
- van Oldenrijk, Jakob;
- Baars, Marieke J.;
- Duijkers, Floor A. M.
Publication type:
Article
ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63602
By:
- Perrone, Eduardo;
- Coelho, Antonio Victor Campos;
- Virmond, Luiza do Amaral;
- Espolaor, Jessica Grasiela de Araujo;
- Filho, João Bosco de Oliveira;
- Nascimento, Amanda Thamires Batista do;
- Matta, Marina Cadena da;
- Meira, Joanna Goes Castro;
- Cardoso—Júnior, Laércio Moreira;
- Andrade, Ana Camila Mendes;
- Chaves, Ricardo Zantieff Topolski;
- Acosta, Angelina Xavier
Publication type:
Article
Table of Contents, Volume 194A, Number 10, October 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63290
Publication type:
Article
Whole‐Genome Sequencing Can Improve Care in Pediatric Cancer.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63289
Publication type:
Article
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63288
Publication type:
Article