Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 2

Results: 45

N‐methyl‐d‐aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 556, doi. 10.1002/ajmg.a.62554
By:
- Charron, Jacob G.;
- Hernandez, Angel;
- Bilinovich, Stephanie M.;
- Vogt, Daniel L.;
- Bedinger, Laura A.;
- Seaver, Laurie H.;
- Williams, Michael;
- Devries, Seth;
- Campbell, Daniel B.;
- Bupp, Caleb P.;
- Prokop, Jeremy W.
Publication type:
Article
Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 414, doi. 10.1002/ajmg.a.62588
By:
- Leoni, Chiara;
- Viscogliosi, Germana;
- Onesimo, Roberta;
- Bisanti, Cristian;
- Massese, Miriam;
- Giorgio, Valentina;
- Corbo, Fabio;
- Tedesco, Marta;
- Acampora, Anna;
- Cipolla, Clelia;
- Dell'Atti, Claudia;
- Flex, Elisabetta;
- Gervasoni, Jacopo;
- Primiano, Aniello;
- Rigante, Donato;
- Tartaglia, Marco;
- Zampino, Giuseppe
Publication type:
Article
The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 400, doi. 10.1002/ajmg.a.62564
By:
- Streur, Courtney S.;
- Floody, Emilia A.;
- Lapham, Zoe K.;
- Sandberg, David E.
Publication type:
Article
A novel DLL4 mutation in Adams–Oliver syndrome with absence of the right pulmonary artery in newborn.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 658, doi. 10.1002/ajmg.a.62562
By:
- Rojnueangnit, Kitiwan;
- Phawan, Thanyalak;
- Khetkham, Thanitchet;
- Techasatid, Wilaiporn;
- Sirichongkolthong, Boonchu
Publication type:
Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
By:
- Abdel‐Salam, Ghada M. H.;
- Duan, Ruizhi;
- Abdel‐Hamid, Mohamed S.;
- Sayed, Inas S. M.;
- Jhangiani, Shalini N.;
- Khan, Ziad;
- Du, Haowei;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Marafi, Dana;
- Lupski, James R.
Publication type:
Article
Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 422, doi. 10.1002/ajmg.a.62615
By:
- Leoni, Chiara;
- Bisanti, Cristian;
- Viscogliosi, Germana;
- Onesimo, Roberta;
- Massese, Miriam;
- Giorgio, Valentina;
- Corbo, Fabio;
- Acampora, Anna;
- Cipolla, Clelia;
- Flex, Elisabetta;
- Dell'Atti, Claudia;
- Rigante, Donato;
- Tartaglia, Marco;
- Zampino, Giuseppe
Publication type:
Article
A new case of Turnpenny‐Fry syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 688, doi. 10.1002/ajmg.a.62560
By:
- Ercoskun, Pelin;
- Yuce Kahraman, Cigdem;
- Adanur Saglam, Kübra;
- Kanjee, Momen;
- Tatar, Abdulgani
Publication type:
Article
First case report of Penttinen syndrome from India.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 683, doi. 10.1002/ajmg.a.62558
By:
- Aggarwal, Bhawana;
- Correa, Alec R. E.;
- Gupta, Neerja;
- Jana, Manisha;
- Kabra, Madhulika
Publication type:
Article
PHIP gene variants with protein modeling, interactions, and clinical phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 579, doi. 10.1002/ajmg.a.62557
By:
- Dietrich, Jordan;
- Lovell, Scott;
- Veatch, Olivia J.;
- Butler, Merlin G.
Publication type:
Article
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 569, doi. 10.1002/ajmg.a.62556
By:
- von Scheibler, Emma N. M. M.;
- van der Valk Bouman, Emy S.;
- Nuijts, Myrthe A.;
- Bauer, Noël J. C.;
- Berendschot, Tos T. J. M.;
- Vermeltfoort, Pit;
- Bok, Levinus A.;
- van Eeghen, Agnies M.;
- Houben, Michiel L.;
- van Amelsvoort, Thérèse A. M. J.;
- Boot, Erik;
- van Egmond‐Ebbeling, Michelle B.
Publication type:
Article
Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 672, doi. 10.1002/ajmg.a.62555
By:
- Fong, Nikki;
- Wei, Heming;
- Lim, Jiin Ying;
- Goh, Chew‐Yin Jasmine;
- Kam, Sylvia;
- Jamuar, Saumya Shekhar;
- Tan, Ene‐Choo
Publication type:
Article
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 642, doi. 10.1002/ajmg.a.62559
By:
- Wawrocka, Anna;
- Walczak‐Sztulpa, Joanna;
- Socha, Magdalena;
- Kuszel, Lukasz;
- Sowinska‐Seidler, Anna;
- Budny, Bartlomiej;
- Bukowska‐Olech, Ewelina;
- Pilas‐Pomykalska, Magdalena;
- Jamsheer, Aleksander;
- Krawczynski, Maciej R.
Publication type:
Article
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 708, doi. 10.1002/ajmg.a.62553
By:
- Perrier, Stefanie;
- Gauquelin, Laurence;
- Wambach, Jennifer A.;
- Bernard, Geneviève
Publication type:
Article
Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 548, doi. 10.1002/ajmg.a.62552
By:
- Kepple, Jeffrey W.;
- Peeples, Eric S.
Publication type:
Article
Identification and functional study of FOXC1 variants in Chinese families with glaucoma.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 540, doi. 10.1002/ajmg.a.62551
By:
- Wang, Xinyao;
- Liu, Xiangyuan;
- Li, Yuying;
- Yang, Bo;
- Sun, Xuejiao;
- Yang, Peng;
- Zhong, Zilin;
- Chen, Jianjun
Publication type:
Article
Pulmonary vascular resistance and compliance in individuals with trisomy 18.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 534, doi. 10.1002/ajmg.a.62550
By:
- Hatai, Eriko;
- Muneuchi, Jun;
- Sugitani, Yuichiro;
- Doi, Hirohito;
- Furuta, Takashi;
- Ezaki, Hiroki;
- Kobayashi, Masaru;
- Sato, Rie;
- Watanabe, Mamie
Publication type:
Article
A disease‐causing variant in HNRNPH2 inherited from an unaffected mother with skewed X‐inactivation.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 668, doi. 10.1002/ajmg.a.62549
By:
- White‐Brown, Alexandre M.;
- Lemire, Gabrielle;
- Ito, Yoko A.;
- Thornburg, Olivia;
- Bain, Jennifer M.;
- Dyment, David A.
Publication type:
Article
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 522, doi. 10.1002/ajmg.a.62548
By:
- De Maria, Beatrice;
- Balestrini, Simona;
- Mei, Davide;
- Melani, Federico;
- Pellacani, Simona;
- Pisano, Tiziana;
- Rosati, Anna;
- Scaturro, Giusi M.;
- Giordano, Lucio;
- Cantalupo, Gaetano;
- Fontana, Elena;
- Zammarchi, Cristina;
- Said, Edith;
- Leuzzi, Vincenzo;
- Mastrangelo, Mario;
- Galosi, Serena;
- Parrini, Elena;
- Guerrini, Renzo
Publication type:
Article
PUS3‐related disorder: Report of a novel patient and delineation of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 635, doi. 10.1002/ajmg.a.62547
By:
- Borghesi, Alessandro;
- Plumari, Massimo;
- Rossi, Elena;
- Viganò, Claudia;
- Cerbo, Rosa Maria;
- Codazzi, Alessia Claudia;
- Valente, Enza Maria;
- Gana, Simone
Publication type:
Article
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 473, doi. 10.1002/ajmg.a.62543
By:
- Schymick, Jennifer;
- Leahy, Peter;
- Cowan, Tina;
- Ruzhnikov, Maura R. Z.;
- Gates, Ryan;
- Fernandez, Liliana;
- Pramanik, Gopal;
- Yarlagadda, Vamsi;
- Wheeler, Matthew;
- Bernstein, Jonathan A.;
- Enns, Gregory M.;
- Lee, Chung
Publication type:
Article
Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000–2011.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 509, doi. 10.1002/ajmg.a.62546
By:
- Nalbandyan, Marine;
- Howley, Meredith M.;
- Cunniff, Christopher M.;
- Leckman‐Westin, Emily;
- Browne, Marilyn L.
Publication type:
Article
Can artificial intelligence save medical genetics?
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 397, doi. 10.1002/ajmg.a.62538
Publication type:
Article
Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 488, doi. 10.1002/ajmg.a.62544
By:
- Struemph, Kari L.;
- Watts, Adreanna T. M.;
- Wolters, Pamela L.;
- Tamula, Mary Anne;
- Baldwin, Andrea;
- Widemann, Brigitte;
- Martin, Staci
Publication type:
Article
Genomic basis of syndromic short stature in an Algerian patient cohort.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 606, doi. 10.1002/ajmg.a.62532
By:
- Moosa, Shahida;
- Chentli, Farida;
- Altmüller, Janine;
- Bögershausen, Nina;
- Nürnberg, Peter;
- Yigit, Gökhan;
- Li, Yun;
- Wollnik, Bernd
Publication type:
Article
Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 692, doi. 10.1002/ajmg.a.62536
By:
- Farnè, Marianna;
- Bernardini, Laura;
- Capalbo, Anna;
- Cavarretta, Giusy;
- Torres, Barbara;
- Sanchini, Mariabeatrice;
- Fini, Sergio;
- Ferlini, Alessandra;
- Bigoni, Stefania
Publication type:
Article
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 498, doi. 10.1002/ajmg.a.62545
By:
- Khan, Kamal;
- Mehmood, Sarmad;
- Liu, Chunyu;
- Siddiqui, Maimoona;
- Ahmad, Arsalan;
- Faiz, Belqees Yawar;
- Chioza, Barry A.;
- Baple, Emma A.;
- Ullah, Muhammad I.;
- Akram, Zaineb;
- Satti, Humayoon S.;
- Khan, Raees;
- Harlalka, Gaurav V.;
- Jameel, Muhammad;
- Akram, Talia;
- Baig, Shahid M.;
- Crosby, Andrew H.;
- Hassan, Muhammad J.;
- Zhang, Feng;
- Davis, Erica E.
Publication type:
Article
Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 618, doi. 10.1002/ajmg.a.62539
By:
- Al‐Harbi, Talal M.;
- Al‐Rammah, Haya;
- Al‐Zahrani, Naif;
- Liu, Yichuan;
- Sleiman, Patrick M. A.;
- Dridi, Walid;
- Hakonarson, Hakon
Publication type:
Article
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 613, doi. 10.1002/ajmg.a.62535
By:
- Yamada, Mamiko;
- Suzuki, Hisato;
- Shima, Taiki;
- Uehara, Tomoko;
- Kosaki, Kenjiro
Publication type:
Article
Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 676, doi. 10.1002/ajmg.a.62542
By:
- Honjo, Rachel Sayuri;
- Monteleone, Vanessa Figueiredo;
- Aiello, Vera Demarchi;
- Wagenfuhr, Jaqueline;
- Issa, Victor Sarli;
- Pomerantzeff, Pablo Maria Alberto;
- Furusawa, Erika Arai;
- Zanardo, Evelin Aline;
- Kulikowski, Leslie Domenici;
- Bertola, Debora Romeo;
- Kim, Chong Ae
Publication type:
Article
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 628, doi. 10.1002/ajmg.a.62541
By:
- Cecchi, Alana C.;
- Haidar, Amier;
- Marin, Isabella;
- Kwartler, Callie S.;
- Prakash, Siddharth K.;
- Milewicz, Dianna M.
Publication type:
Article
Isolated cytokine‐enriched pericardial effusion: A likely key feature for Aymé‐Gripp syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 624, doi. 10.1002/ajmg.a.62540
By:
- König, Anna‐Lina;
- Sabir, Hemmen;
- Strizek, Brigitte;
- Gembruch, Ulrich;
- Herberg, Ulrike;
- Bertrand, Miriam;
- Grasshoff, Ute;
- Wiegand, Gesa;
- Wiechers, Cornelia;
- Bernis, Eugenia;
- Reutter, Heiko;
- Müller, Andreas
Publication type:
Article
Functioning and well‐being in older children and adolescents with achondroplasia: A qualitative study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 454, doi. 10.1002/ajmg.a.62534
By:
- Pfeiffer, Kathryn M.;
- Brod, Meryl;
- Smith, Alden;
- Viuff, Dorthe;
- Ota, Sho;
- Charlton, R. Will
Publication type:
Article
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 446, doi. 10.1002/ajmg.a.62533
By:
- Nishi, Eriko;
- Takenouchi, Toshiki;
- Miya, Fuyuki;
- Uehara, Tomoko;
- Yanagi, Kumiko;
- Hasegawa, Yuiko;
- Ueda, Kimiko;
- Mizuno, Seiji;
- Kaname, Tadashi;
- Kosaki, Kenjiro;
- Okamoto, Nobuhiko
Publication type:
Article
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 463, doi. 10.1002/ajmg.a.62537
By:
- Strong, Alanna;
- March, Michael E.;
- Cardinale, Christopher J.;
- Kim, Sophia E.;
- Merves, Jamie;
- Whitworth, Hilary;
- Raffini, Leslie;
- Larosa, Christopher;
- Copelovitch, Lawrence;
- Hou, Cuiping;
- Slater, Diana;
- Vaccaro, Courtney;
- Watson, Deborah;
- Zackai, Elaine H.;
- Billheimer, Jeffrey;
- Hakonarson, Hakon
Publication type:
Article
Vanishing basal ganglia in ATP1A3‐related polymicrogyria.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 665, doi. 10.1002/ajmg.a.62531
By:
- Ogawa, Eri;
- Sakaguchi, Yuri;
- Enokizono, Mikako;
- Yoshihashi, Hiroshi;
- Yamada, Mamiko;
- Suzuki, Hisato;
- Kosaki, Kenjiro;
- Miyama, Sahoko;
- Takenouchi, Toshiki
Publication type:
Article
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 600, doi. 10.1002/ajmg.a.62530
By:
- Gao, Shanshan;
- Mumme‐Monheit, Abigail;
- Chen, Suet Nee;
- Spector, Elaine B.;
- Slavov, Dobromir;
- Baralle, Francisco E.;
- Bristow, Michael R.;
- Mestroni, Luisa;
- Taylor, Matthew R. G.
Publication type:
Article
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 431, doi. 10.1002/ajmg.a.62529
By:
- Leoni, Chiara;
- Blandino, Rita;
- Delogu, Angelica Bibiana;
- De Rosa, Gabriella;
- Onesimo, Roberta;
- Verusio, Valeria;
- Marino, Maria Vittoria;
- Lanza, Gaetano Antonio;
- Rigante, Donato;
- Tartaglia, Marco;
- Zampino, Giuseppe
Publication type:
Article
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 595, doi. 10.1002/ajmg.a.62528
By:
- Blakes, Alexander J. M.;
- English, Joel;
- Banka, Siddharth;
- Basu, Helen
Publication type:
Article
INTU‐related oral‐facial‐digital syndrome XVII: Clinical spectrum of a rare disorder.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 590, doi. 10.1002/ajmg.a.62527
By:
- Yakar, Omer;
- Tatar, Abdulgani
Publication type:
Article
Cover Image, Volume 188A, Number 2, February 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. i, doi. 10.1002/ajmg.a.62276
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 395, doi. 10.1002/ajmg.a.62275
Publication type:
Article
Genome‐Wide Cell‐Free DNA Screening Tests Go Beyond Scope of Traditional cfDNA Assays.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 393, doi. 10.1002/ajmg.a.62274
Publication type:
Article
ACMG Updates Chromosomal Microarray Analysis Guidelines.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 392, doi. 10.1002/ajmg.a.62273
Publication type:
Article
Publication schedule for 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 391, doi. 10.1002/ajmg.a.62272
Publication type:
Article
Table of Contents, Volume 188A, Number 2, February 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 385, doi. 10.1002/ajmg.a.62271
Publication type:
Article