Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 6

Results: 41

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1815, doi. 10.1002/ajmg.a.62718
By:
- Otaify, Ghada A.;
- Abdel‐Hamid, Mohamed S.;
- Hassib, Nehal F.;
- Elhossini, Rasha M.;
- Abdel‐Ghafar, Sherif F.;
- Aglan, Mona S.
Publication type:
Article
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1896, doi. 10.1002/ajmg.a.62717
By:
- Grosvenor, Sarah E.;
- Davies, Justin H.;
- Lever, Margaret;
- Sillibourne, Julie;
- Mackay, Deborah J. G.;
- Temple, I. Karen
Publication type:
Article
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1915, doi. 10.1002/ajmg.a.62716
By:
- Kontaridis, Maria I.;
- Roberts, Amy E.;
- Schill, Lisa;
- Schoyer, Lisa;
- Stronach, Beth;
- Andelfinger, Gregor;
- Aoki, Yoko;
- Axelrad, Marni E.;
- Bakker, Annette;
- Bennett, Anton M.;
- Broniscer, Alberto;
- Castel, Pau;
- Chang, Caitlin A.;
- Cyganek, Lukas;
- Das, Tirtha K.;
- den Hertog, Jeroen;
- Galperin, Emilia;
- Garg, Shruti;
- Gelb, Bruce D.;
- Gordon, Kristiana
Publication type:
Article
Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1808, doi. 10.1002/ajmg.a.62715
By:
- Li, Dong;
- March, Michael E.;
- Wang, Tiancheng;
- Merengwa, Victoria;
- Sertori Finoti, Livia;
- Schrier Vergano, Samantha A.;
- Hakonarson, Hakon;
- Bhoj, Elizabeth J.
Publication type:
Article
Neurological features of Noonan syndrome and related RASopathies: Pain and nerve enlargement characterized by nerve ultrasound.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1801, doi. 10.1002/ajmg.a.62714
By:
- De Ridder, Willem;
- van Engelen, Baziel;
- van Alfen, Nens
Publication type:
Article
A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1890, doi. 10.1002/ajmg.a.62713
By:
- Sezer, Abdullah;
- Perçin, Ferda Emriye;
- Kazan, Hasan Huseyin;
- Kayhan, Gulsum;
- Akturk, Mujde
Publication type:
Article
A novel pathogenic variant at the C‐terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1885, doi. 10.1002/ajmg.a.62712
By:
- Lang, Steven H.;
- Gallo, Ryan A.;
- Forghani, Irman
Publication type:
Article
Erratum to Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Published in:
2022
Publication type:
Correction Notice
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1661, doi. 10.1002/ajmg.a.62710
By:
- Apuril Velgara, Erika Solansh;
- Mariani, Milena;
- Torella, Annalaura;
- Musacchia, Francesco;
- Nigro, Vincenzo;
- Selicorni, Angelo
Publication type:
Article
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1752, doi. 10.1002/ajmg.a.62703
By:
- Loh, Abigail Y. T.;
- Špoljar, Sanja;
- Neo, Granville Y. W.;
- Escande‐Beillard, Nathalie;
- Leushacke, Marc;
- Luijten, Monique N. H.;
- Venkatesh, Byrappa;
- Bonnard, Carine;
- van Steensel, Maurice A. M.;
- Hamm, Henning;
- Carmichael, Andrew;
- Rajan, Neil;
- Carney, Thomas J.;
- Reversade, Bruno
Publication type:
Article
Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS).
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1792, doi. 10.1002/ajmg.a.62709
By:
- Gökpınar İli, Ezgi;
- Taşdelen, Elifcan;
- Durmaz, Ceren Damla;
- Altıner, Şule;
- Tuncalı, Timur;
- Martinez‐Glez, Victor;
- Karabulut, Halil Gürhan;
- Vural, Seçil;
- Ceylaner, Serdar;
- Acar, Mustafa Oğuz;
- Ilgın Ruhi, Hatice
Publication type:
Article
Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1881, doi. 10.1002/ajmg.a.62707
By:
- Karaer, Derya;
- Karaer, Kadri
Publication type:
Article
BRPF1‐associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1875, doi. 10.1002/ajmg.a.62706
By:
- Souza, Josiane;
- do Valle, Daniel Almeida;
- Santos, Mara Lucia Schmidt Ferreira;
- Colomé, Fernanda Bonilla;
- Teive, Helio Afonso Ghizoni;
- da Silva Freitas, Renato;
- Herai, Roberto Hirochi
Publication type:
Article
The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1761, doi. 10.1002/ajmg.a.62705
By:
- Peebles, Karen C.;
- Tan, Isabella;
- Butlin, Mark;
- Collins, Felicity;
- Tofts, Louise;
- Avolio, Alberto P.;
- Pacey, Verity
Publication type:
Article
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704
By:
- Magyar, Christina L.;
- Murdock, David R.;
- Burrage, Lindsay C.;
- Dai, Hongzheng;
- Lalani, Seema R.;
- Lewis, Richard A.;
- Lin, Yuezhen;
- Astudillo, Marcela F.;
- Rosenfeld, Jill A.;
- Tran, Alyssa A.;
- Gibson, James B.;
- Bacino, Carlos A.;
- Lee, Brendan H.;
- Chao, Hsiao‐Tuan
Publication type:
Article
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1777, doi. 10.1002/ajmg.a.62708
By:
- Verberne, Eline A.;
- Westermann, Jonne M.;
- de Vries, Tamar I.;
- Ecury‐Goossen, Ginette M.;
- Lo‐A‐Njoe, Shirley M.;
- Manshande, Meindert E.;
- Faries, Sonja;
- Veenhuis, Hans D.;
- Philippi, Patricia;
- Falix, Farah A.;
- Rosina‐Angelista, Irsa;
- Ponson‐Wever, Maria;
- Rafael‐Croes, Louise;
- Thorsen, Patricia;
- Arends, Eric;
- de Vroomen, Maartje;
- Nagelkerke, Sietse Q.;
- Tilanus, Martijn;
- van der Veken, Lars T.;
- Huijsdens‐van Amsterdam, Karin
Publication type:
Article
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1928, doi. 10.1002/ajmg.a.62702
By:
- Yang, Xiao‐Ru;
- Marwaha, Ashish
Publication type:
Article
Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1909, doi. 10.1002/ajmg.a.62701
By:
- Sait, Haseena;
- Moirangthem, Amita;
- Agrawal, Vinita;
- Phadke, Shubha R.
Publication type:
Article
Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1863, doi. 10.1002/ajmg.a.62700
By:
- Ishi, Yukitomo;
- Era, Takumi;
- Yuzawa, Sayaka;
- Okamoto, Michinari;
- Sawaya, Ryosuke;
- Motegi, Hiroaki;
- Yamaguchi, Shigeru;
- Terasaka, Shunsuke;
- Houkin, Kiyohiro;
- Fujimura, Miki
Publication type:
Article
LMOD2‐related dilated cardiomyopathy presenting in late infancy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1858, doi. 10.1002/ajmg.a.62699
By:
- Lay, Erica;
- Azamian, Mahshid S.;
- Denfield, Susan W.;
- Dreyer, William;
- Spinner, Joseph A.;
- Kearney, Debra;
- Zhang, Lilei;
- Worley, Kim C.;
- Bi, Weimin;
- Lalani, Seema R.
Publication type:
Article
ADAMTSL4‐related ectopia lentis: A case of pseudodominance with an asymptomatic parent.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1853, doi. 10.1002/ajmg.a.62698
By:
- Scanga, Hannah L.;
- Nischal, Ken K.
Publication type:
Article
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1723, doi. 10.1002/ajmg.a.62691
By:
- Collins‐Sawaragi, Yoshua Colyn;
- Ferner, Rosalie;
- Vassallo, Grace;
- De Agrò, Germana;
- Eccles, Simon;
- Cadwgan, Jill;
- Hargrave, Darren;
- Hupton, Eileen;
- Eelloo, Judith;
- Lunt, Lauren;
- Tang, Vivian;
- Burkitt Wright, Emma;
- Lascelles, Karine
Publication type:
Article
Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1716, doi. 10.1002/ajmg.a.62690
By:
- Tanner, Laura M.;
- Kunishima, Shinji;
- Lehtinen, Elina;
- Helin, Tuukka;
- Volmonen, Kirsi;
- Lassila, Riitta;
- Pöyhönen, Minna
Publication type:
Article
Hypothesis: Central digit hypoplasia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1746, doi. 10.1002/ajmg.a.62697
By:
- Holmes, Lewis B.;
- Nasri, Hanah Z.
Publication type:
Article
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1836, doi. 10.1002/ajmg.a.62694
By:
- Catino, Giorgia;
- Genovese, Silvia;
- Di Tommaso, Silvia;
- Orlando, Valeria;
- Petti, Maria Teresa;
- De Bernardi, Margherita Lucia;
- Dallapiccola, Bruno;
- Novelli, Antonio;
- Ulgheri, Lucia;
- Piscopo, Carmelo;
- Alesi, Viola
Publication type:
Article
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1728, doi. 10.1002/ajmg.a.62693
By:
- Wen, Jiadi;
- Chai, Hongyan;
- Grommisch, Brittany;
- DiAdamo, Autumn;
- Dykas, Daniel;
- Ma, Deqiong;
- Popa, Andreea;
- Zhao, Chen;
- Spencer‐Manzon, Michele;
- Jiang, Yong‐Hui;
- McGrath, James;
- Li, Peining;
- Bale, Allen;
- Zhang, Hui
Publication type:
Article
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1904, doi. 10.1002/ajmg.a.62692
By:
- Sandal, Sapna;
- Mahay, Sunita Bijarnia;
- Dimri Gupta, Nandita;
- Saxena, Renu;
- Lall, Meena;
- Dua Puri, Ratna
Publication type:
Article
Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler–Najjar syndrome type I and long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1848, doi. 10.1002/ajmg.a.62696
By:
- Knapp, Anna;
- Jagła, Mateusz;
- Madetko‐Talowska, Anna;
- Szewczyk, Katarzyna;
- Książek, Teofila;
- Końska, Katarzyna;
- Kwinta, Przemko
Publication type:
Article
De novo loss‐of‐function variant in PTDSS1 is associated with developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1739, doi. 10.1002/ajmg.a.62695
By:
- Gracie, Sara;
- Sengupta, Nivedita;
- Ferreira, Carlos;
- Pemberton, Joshua;
- Anderson, Ilse;
- Wang, Xin;
- Rhodes, Lindsay;
- Brown, Kathleen;
- Balla, Tamas;
- Larson, Austin
Publication type:
Article
Clinical and biochemical outcomes in cobalamin C deficiency with use of high‐dose hydroxocobalamin in the early neonatal period.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1831, doi. 10.1002/ajmg.a.62687
By:
- Kacpura, Abigail;
- Frigeni, Marta;
- Gunther, Kathryn;
- Farach, Laura
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1659, doi. 10.1002/ajmg.a.62299
Publication type:
Article
Single Assay Tests for More Than 50 Genetic Disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1657, doi. 10.1002/ajmg.a.62298
Publication type:
Article
Ultrarapid Nanopore Genome Sequencing Speeds up Diagnosis in a Critical Care Setting.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1656, doi. 10.1002/ajmg.a.62297
Publication type:
Article
Publication schedule for 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1655, doi. 10.1002/ajmg.a.62296
Publication type:
Article
Co‐occurring anomalies in congenital oral clefts.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1700, doi. 10.1002/ajmg.a.62689
By:
- Stoll, Claude;
- Alembik, Yves;
- Roth, Marie‐Paule
Publication type:
Article
KBG syndrome in a Chinese population: A case series.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1693, doi. 10.1002/ajmg.a.62688
By:
- Ho, Stephanie;
- Luk, Ho‐Ming;
- Lo, Ivan F. M.
Publication type:
Article
Table of Contents, Volume 188A, Number 6, June 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1649, doi. 10.1002/ajmg.a.62295
Publication type:
Article
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1688, doi. 10.1002/ajmg.a.62686
By:
- Langley, Elizabeth;
- Farach, Laura S.;
- Koenig, Mary K.;
- Northrup, Hope;
- Rodriguez‐Buritica, David F.;
- Mowrey, Kate
Publication type:
Article
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1676, doi. 10.1002/ajmg.a.62685
By:
- Johansson, Josefin;
- Frykholm, Carina;
- Ericson, Katharina;
- Kazamia, Kalliopi;
- Lindberg, Amanda;
- Mulaiese, Nancy;
- Falck, Geir;
- Gustafsson, Per‐Erik;
- Lidéus, Sarah;
- Gudmundsson, Sanna;
- Ameur, Adam;
- Bondeson, Marie‐Louise;
- Wilbe, Maria
Publication type:
Article
Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1826, doi. 10.1002/ajmg.a.62684
By:
- Huljev Frković, Sanda;
- Vičić, Ana;
- Crkvenac Gornik, Kristina;
- Kulišić, Dinko;
- Stipoljev, Feodora
Publication type:
Article
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1667, doi. 10.1002/ajmg.a.62673
By:
- Lines, Matthew A.;
- Goldenberg, Paula;
- Wong, Ashley;
- Srivastava, Siddharth;
- Bayat, Allan;
- Hove, Hanne;
- Karstensen, Helena Gásdal;
- Anyane‐Yeboa, Kwame;
- Liao, Jun;
- Jiang, Nan;
- May, Alison;
- Guzman, Edwin;
- Morleo, Manuela;
- D'Arrigo, Stefano;
- Ciaccio, Claudia;
- Pantaleoni, Chiara;
- Castello, Raffaele;
- McKee, Shane;
- Ong, Jinfon;
- Zibdeh‐Lough, Hana
Publication type:
Article