Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 12

Results: 35

Cover Image, Volume 194A, Number 12, December 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63928
Publication type:
Article
Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63852
By:
- Sezer, Abdullah;
- Özdemir, Zeynep;
- Özkan, Erdem;
- Çetinkaya, Semra
Publication type:
Article
Longitudinal echocardiography in pediatric patients with hypermobile Ehlers‐Danlos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63844
By:
- Lahey, Hannah;
- Shin, Haewon;
- Myers, Katherine;
- McBride, Kim L.
Publication type:
Article
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63841
By:
- Clark, Dinah;
- Burns, Robert;
- Bloom, Michelle S.;
- Lim, Karen Phaik Har;
- Li, Lili;
- Vincent, Lisa M.;
- Xie, Jing;
- Xue, Yuan;
- Punj, Sumit
Publication type:
Article
Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63840
By:
- Nisbet, Alex F.;
- Viswanathan, Aravind;
- George, Andrew M.;
- Arias, Pedro;
- Klein, Steven D.;
- Nevado, Julian;
- Parra, Alejandro;
- Pascual, Patricia;
- Romeo, Dominic J.;
- Tenorio‐Castaño, Jair;
- Taylor, Jesse A.;
- Zackai, Elaine H.;
- Lapunzina, Pablo;
- Kalish, Jennifer M.
Publication type:
Article
Regions of Homozygocity size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63839
By:
- Maya, Idit;
- Levy, Michal;
- Matar, Reut;
- Kahana, Sarit;
- Agmon‐Fishman, Ifaat;
- Klein, Cochava;
- Gurevitch, Merav;
- Basel‐Salmon, Lina;
- Sagi‐Dain, Lena
Publication type:
Article
Correction to "Uniparental disomy of multiple chromosomes in two cases with a complex phenotype".
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63837
Publication type:
Article
CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63836
By:
- de Queiroz Júnior, Amaro Freire;
- Sanseverino, Maria Teresa Vieira;
- Collares, Marcus Vinicius Martins;
- Fornari, Adriana;
- do Virmond, Luiza Amaral;
- Filho, João Bosco Oliveira;
- Artigalás, Osvaldo;
- Félix, Têmis Maria
Publication type:
Article
Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63835
By:
- Herbster, Jack;
- Prada, Carlos E.;
- Rasmussen, Carly A.;
- Quadri, Allegra;
- Kuritza, Victoria;
- Viglione, Michael;
- Hoyer, Sheryl
Publication type:
Article
Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63834
By:
- Jacobsmeyer, Andrew T.;
- Buitrago‐Mogollon, Talia L.;
- White, Blanche;
- Charles, Jasmyne‐Rian;
- Clarke‐Pounder, Jessica P.;
- Amador, Jodi;
- Carter, Lauren B.
Publication type:
Article
Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect‐1 (GPIBD1).
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63833
By:
- Brady, Lauren;
- Yadav, Rashmi;
- Edmondson, Andrew C.;
- Tarnopolsky, Mark
Publication type:
Article
Prevalence rates for ectodermal dysplasia syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63832
By:
- Butcher, Clayton;
- Abbott, Becky M.;
- Grange, Dorothy;
- Fete, Mary;
- Meyer, Beau;
- Spinka, Christine;
- Fete, Timothy
Publication type:
Article
Double somatic mosaicism in Marfan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63831
By:
- Carrera, Ignacio Arroyo;
- Amor‐Salamanca, Almudena;
- Isidro, Elena Márquez;
- Pérez‐Barbeito, Marlene;
- Sacristán, Ana Raquel Barrio;
- Ochoa, Juan Pablo
Publication type:
Article
Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63830
By:
- Ventayol‐Guirado, Marc;
- Torres, Laura;
- Asensio‐Landa, Victor;
- Pérez‐Granero, Ángeles;
- Madrid, Maria Isabel;
- Hernandez‐Rodriguez, Jessica;
- Llull‐Alberti, Maria Victoria;
- Lumbreras, Javier;
- Escribà, Silvia;
- Pons, Monserrat;
- Roldan, Jordi;
- Martínez‐López, Iciar;
- Heine‐Suñer, Damian;
- Santos‐Simarro, Fernando
Publication type:
Article
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63829
By:
- Wang, Magnolia G.;
- Lancaster, Kristen;
- Powell, Cynthia M.
Publication type:
Article
Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63828
By:
- Dong, Yue;
- Jia, Milan;
- Tan, Shuang;
- Li, Xu‐Ying;
- Song, Yang;
- Wang, Xianling;
- Wang, Zhanjun;
- Wang, Chaodong
Publication type:
Article
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63827
By:
- Boechler, Michael;
- Fu, Yi‐Ping;
- Raja, Neelam;
- Ruiz‐Escobar, Emily;
- Nimmagadda, Likitha;
- Osgood, Sharon;
- Levin, Mark D.;
- Hadigan, Colleen;
- Kozel, Beth A.
Publication type:
Article
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63826
By:
- Mitrakos, A.;
- Kekou, K.;
- Tilemis, F.‐N.;
- Svingou, M.;
- Papadimas, G.;
- Sofocleous, C.;
- Traeger‐Synodinos, J.;
- Tzetis, M.
Publication type:
Article
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63825
By:
- Bowen, Aaron B.;
- Rapalino, Otto;
- Jaimes, Camilo;
- Ratai, Eva‐Maria;
- Zhong, Yingyi;
- Thiele, Elizabeth A.;
- Kritzer, Amy;
- Ganetzky, Rebecca D.;
- Gold, Nina B.;
- Walker, Melissa A.
Publication type:
Article
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824
By:
- Chelleri, Cristina;
- Brolatti, Noemi;
- De Marco, Patrizia;
- Ognibene, Marzia;
- Diana, Maria Cristina;
- Madia, Francesca;
- Duca, Marco Di;
- Santangelo, Andrea;
- Capra, Valeria;
- Striano, Pasquale;
- Zara, Federico;
- Scala, Marcello
Publication type:
Article
A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63823
By:
- Wang, Yaoping;
- Wang, Hongdan;
- Yang, Wenke;
- Guo, Han;
- Zhang, Mengting;
- Gao, Yue;
- Kang, Bing;
- Liao, Shixiu
Publication type:
Article
Subtle phenotypes of Mowat–Wilson syndrome in a patient with a novel ZEB2 C‐ZF domain variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63822
By:
- Kuroda, Yukiko;
- Naruto, Takuya;
- Kurosawa, Kenji
Publication type:
Article
Ophthalmic manifestations of NAA10‐related and NAA15‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63821
By:
- Patel, Rahi;
- Park, Agnes Y.;
- Marchi, Elaine;
- Gropman, Andrea L.;
- Whitehead, Matthew T.;
- Lyon, Gholson J.
Publication type:
Article
Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63820
By:
- Plante‐Bordeneuve, Pauline;
- Boussion, Simon;
- Rama, Mélanie;
- Brunelle, Perrine;
- Thuillier, Caroline;
- Vanlerberghe, Clémence;
- Caumes, Roseline;
- Colson, Cindy;
- Ait‐Yahya, Emilie;
- Ghoumid, Jamal;
- Smol, Thomas
Publication type:
Article
Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63819
By:
- Klamut, Natalia;
- Bothwell, Samantha;
- Carl, Alexandra E.;
- Bamba, Vaneeta;
- Law, Jennifer R.;
- Brickman, Wendy J.;
- Klein, Karen O.;
- Kanakatti Shankar, Roopa;
- Pinnaro, Catherina T.;
- Fechner, Patricia Y.;
- Prakash, Siddharth K.;
- Gutmark‐Little, Iris;
- Howell, Susan;
- Tartaglia, Nicole;
- Good, Marybel;
- Ranallo, Kelly C.;
- Davis, Shanlee M.
Publication type:
Article
Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63818
By:
- Sund, Kristen L.;
- Liu, Jie;
- Lee, Joyce;
- Garbe, John;
- Abdelhamed, Zakia;
- Maag, Chelsey;
- Hallinan, Barbara;
- Wu, Steven W.;
- Sperry, Ethan;
- Deshpande, Archana;
- Stottmann, Rolf;
- Smolarek, Teresa A.;
- Dyer, Lisa M.;
- Hestand, Matthew S.
Publication type:
Article
Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63817
By:
- Nomakuchi, Tomoki T.;
- Teferedegn, Eden Y.;
- Li, Dong;
- Muirhead, Kayla J.;
- Dubbs, Holly;
- Leonard, Jacqueline;
- Muraresku, Colleen;
- Sergio, Emily;
- Arnold, Kaley;
- Pizzino, Amy;
- Skraban, Cara M.;
- Zackai, Elaine H.;
- Wang, Kai;
- Ganetzky, Rebecca D.;
- Vanderver, Adeline L.;
- Ahrens‐Nicklas, Rebecca C.;
- Bhoj, Elizabeth J. K.
Publication type:
Article
Expanding the clinical phenotype and variant spectrum associated with RFX7.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63816
By:
- Sisroe, Talia;
- Santos, Attila Dos;
- Rippert, Alyssa L.;
- Gray, Christopher;
- Skraban, Cara M.;
- Nelson, Beverly;
- Tefft, Sarah;
- Helbig, Ingo;
- Li, Dong;
- Bhoj, Elizabeth J.;
- Sobering, Andrew K.
Publication type:
Article
A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63815
By:
- Gao, Jian;
- Ververi, Athina;
- Thompson, Ellen;
- Tryon, Rob;
- Sotiriadis, Alexandros;
- Rouvalis, Fotios;
- Grange, Dorothy K.;
- Giannios, Christos;
- Nichols, Colin G.
Publication type:
Article
Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63814
By:
- Rodriguez‐Gil, Jorge L.;
- Nagy, Peter L.;
- Francke, Uta
Publication type:
Article
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63812
By:
- Maya‐González, Carolina;
- Delgado‐Vega, Angelica Maria;
- Taylan, Fulya;
- Lagerstedt Robinson, Kristina;
- Hansson, Lina;
- Pal, Niklas;
- Fagman, Henrik;
- Puls, Florian;
- Wessman, Sandra;
- Stenman, Jakob;
- Georgantzi, Kleopatra;
- Fransson, Susanne;
- Díaz De Ståhl, Teresita;
- Ek, Torben;
- Palmer, Ruth;
- Tesi, Bianca;
- Kogner, Per;
- Martinsson, Tommy;
- Nordgren, Ann
Publication type:
Article
Table of Contents, Volume 194A, Number 12, December 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, 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. 12, p. 1, doi. 10.1002/ajmg.a.63298
Publication type:
Article
Ethics of DNA Testing to Determine Nationality.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63297
Publication type:
Article
Gene Therapy Delivery Vector Crosses the Blood‐Brain Barrier.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63296
Publication type:
Article