Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 3

Results: 42

Cover Image, Volume 191A, Number 3, March 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. i, doi. 10.1002/ajmg.a.63136
Publication type:: Article

Correction to "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:: 2023
Publication type:: Correction Notice

Correction to "Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant".

Published in:: 2023
Publication type:: Correction Notice

Correction to "TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition".

Published in:: 2023
Publication type:: Correction Notice

Rare diseases of ectoderm: Translating discovery to therapy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 902, doi. 10.1002/ajmg.a.63090

By:

Wright, John Timothy;
Abbott, Becky M.;
Salois, Maddison N.;
Gugger, Jessica A.;
Parraga, Shirley P.;
Swanson, Amanda K.;
Fete, Mary;
Koster, Maranke I.

Publication type:

Article

Complex congenital cardiovascular anomaly in a patient with AGO1‐associated disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 882, doi. 10.1002/ajmg.a.63089

By:

Takagi, Minako;
Ono, Shin;
Kumaki, Tatsuro;
Nishimura, Naoto;
Murakami, Hiroaki;
Enomoto, Yumi;
Naruto, Takuya;
Ueda, Hideaki;
Kurosawa, Kenji

Publication type:

Article

First case of desmosterolosis diagnosed by prenatal whole exome sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 859, doi. 10.1002/ajmg.a.63083

By:

Hill, Chloe;
Noureldein, Mona;
Karkhanis, Pallavi;
Kinning, Esther;
Vijay, Suresh;
Gowda, Harsha

Publication type:

Article

Acute myeloid leukemia associated with CHARGE syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 878, doi. 10.1002/ajmg.a.63087

By:

Shuto, Marie;
Hirano, Naoki;
Oguri, Saori;
Itonaga, Tomoyo;
Inoue, Masanori;
Suenobu, Souichi;
Ihara, Kenji

Publication type:

Article

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 896, doi. 10.1002/ajmg.a.63086

By:

Breet, Hanna;
Vos, Yvonne J.;
Dijkhuizen, Trijnie;
Voorbij‐Vierstra, Carlijn L.;
Bolling, Maria C.;
van den Akker, Peter C.

Publication type:

Article

A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 870, doi. 10.1002/ajmg.a.63085

By:

Zunova, Hana;
Stolfa, Miroslav;
Kunikova, Tereza;
Novotna, Drahuse;
Valkovicova, Radka;
Štěrbová, Katalin;
Vlckova, Marketa

Publication type:

Article

T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 864, doi. 10.1002/ajmg.a.63084

By:

Sait, Haseena;
Shambhavi, Arya;
Pandey, Manmohan;
Ravichandran, Deepak;
Phadke, Shubha R.

Publication type:

Article

Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 813, doi. 10.1002/ajmg.a.63088

By:

Oreskovic, Nicolas M.;
Baumer, Nicole T.;
Di Camillo, Chiara;
Cornachia, Michelle;
Franklin, Catherine;
Hart, Sarah J.;
Kishnani, Priya S.;
McCormick, Andrew;
Milliken, Anna L.;
Patsiogiannis, Vasiliki;
Pawlowski, Katherine G.;
Santoro, Stephanie L.;
Sargado, Sabrina;
Scoppola, Vittorio;
Torres, Amy;
Valentini, Diletta;
Vellody, Kishore;
Villani, Alberto;
Skotko, Brian G.

Publication type:

Article

A novel variant of ARPC4‐related neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 893, doi. 10.1002/ajmg.a.63082

By:

Kuroda, Yukiko;
Kumaki, Tatsuro;
Saito, Yoko;
Enomoto, Yumi;
Suzuki, Hisato;
Takenouchi, Toshiki;
Kosaki, Kenjiro;
Kurosawa, Kenji

Publication type:

Article

Patterns of co‐occurring birth defects in children with anotia and microtia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 805, doi. 10.1002/ajmg.a.63081

By:

Schraw, Jeremy M.;
Benjamin, Renata H.;
Shumate, Charles J.;
Canfield, Mark A.;
Scott, Daryl A.;
McLean, Scott D.;
Northrup, Hope;
Scheuerle, Angela E.;
Schaaf, Christian P.;
Ray, Joseph W.;
Chen, Han;
Agopian, A. J.;
Lupo, Philip J.

Publication type:

Article

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080

By:

Dawood, Moez;
Akay, Gulsen;
Mitani, Tadahiro;
Marafi, Dana;
Fatih, Jawid M.;
Gezdirici, Alper;
Najmabadi, Hossein;
Kahrizi, Kimia;
Punetha, Jaya;
Grochowski, Christopher M.;
Du, Haowei;
Jolly, Angad;
Li, He;
Coban‐Akdemir, Zeynep;
Sedlazeck, Fritz J.;
Hunter, Jill V.;
Jhangiani, Shalini N.;
Muzny, Donna;
Pehlivan, Davut;
Posey, Jennifer E.

Publication type:

Article

Fatal gastrointestinal complications in Pitt‐Hopkins syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 855, doi. 10.1002/ajmg.a.63079

By:

Koppen, Ilan J. N.;
Menke, Leonie A.;
Westra, Wytske M.;
Struik, Femke;
Mesman, Simone;
van Wijk, Michiel P.;
Huisman, Sylvia A.

Publication type:

Article

SHORT syndrome with microcephaly and developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 850, doi. 10.1002/ajmg.a.63078

By:

Patel, Viraj;
Cui, Wei;
Cobben, Jan M.

Publication type:

Article

Retinal detachment in Loeys–Dietz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 846, doi. 10.1002/ajmg.a.63077

By:

Maghsoudi, Daniel;
Nixon, Thomas R. W.;
Snead, Martin P.

Publication type:

Article

Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 842, doi. 10.1002/ajmg.a.63076

By:

Rosati, Justin;
Johnson, Jessica;
Stander, Zinandre;
White, Amy;
Tortorelli, Silvia;
Bailey, Diana;
Fong, Chin‐To;
Lee, Bo Hoon

Publication type:

Article

Siblings with profound connective tissue disease: First report of biallelic TGFBR1‐related Loeys‐Dietz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 786, doi. 10.1002/ajmg.a.63075

By:

Starr, Lois Janelle;
Lindsay, Mark Evan;
Lino Cardenas, Christian lacks;
Yetman, Anji T.

Publication type:

Article

Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 776, doi. 10.1002/ajmg.a.63074

By:

Chong, Shuk Ching;
Cao, Ye;
Fung, Eva L. W.;
Kleppe, Soledad;
Gripp, Karen W.;
Hertecant, Jozef;
El‐Hattab, Ayman W.;
Suleiman, Jehan;
Clark, Gary;
von Allmen, Gretchen;
Rodziyevska, Olga;
Lewis, Richard A.;
Rosenfeld, Jill A.;
Dong, Jie;
Wang, Xia;
Miller, Marcus J.;
Bi, Weimin;
Liu, Pengfei;
Scaglia, Fernando

Publication type:

Article

Autosomal dominant inheritance with sex‐limited manifestation: An unusual mode of transmission in humans and animals.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 684, doi. 10.1002/ajmg.a.63073

By:

Happle, Rudolf;
Eyerich, Kilian

Publication type:

Article

Financial impact of a specialized Down syndrome clinic: Implications and support for institutional support of specialty care clinics.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 770, doi. 10.1002/ajmg.a.63072

By:

VanZant, J. Seth;
Vellody, Kishore

Publication type:

Article

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 760, doi. 10.1002/ajmg.a.63071

By:

Alkhunaizi, Ebba;
Martin, Nicole;
Jelin, Angie C.;
Rosner, Mara;
Bailey, Diana J.;
Steiner, Laurie A.;
Lakhani, Saquib;
Ji, Weizhen;
Katzman, Philip J.;
Forster, Katherine R.;
Jarinova, Olga;
Shannon, Patrick;
Chitayat, David

Publication type:

Article

Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 753, doi. 10.1002/ajmg.a.63070

By:

Wang, Xia;
Moore, Colin;
Bao, Yong

Publication type:

Article

Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 742, doi. 10.1002/ajmg.a.63069

By:

Krell, Kavita;
Pless, Albert;
Michael, Carie;
Torres, Amy;
Chung, Jeanhee;
Baker, Sandra;
Blake, Jasmine M.;
Caughman, Kelli;
Cullen, Sarah;
Gallagher, Maureen;
Hoke‐Chandler, Roxanne;
Maina, Julius;
McLuckie, Diana;
O'Neill, Kate;
Peña, Angeles;
Royal, Dina;
Slape, Michelle;
Spinazzi, Noemi Alice;
Torres, Carlos G.;
Skotko, Brian G.

Publication type:

Article

5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 835, doi. 10.1002/ajmg.a.63068

By:

van der Lugt, Neeltje Margreth;
Weerts, Marjolein J. A.;
Veenma, Danielle C. M.;
Lincke, Carsten R.;
Gischler, Saskia J.;
Alders, Marielle;
van Ierland, Yvette

Publication type:

Article

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 730, doi. 10.1002/ajmg.a.63067

By:

Nayak, Shalini S.;
Harkness, Robert;
Shukla, Anju;
Banka, Siddharth;
Newman, William G.;
Girisha, Katta M.

Publication type:

Article

A novel homozygous nonsense NDNF variant in Kallmann syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 831, doi. 10.1002/ajmg.a.63066

By:

Kotan, Leman Damla;
Yildiz, Melek;
Turan, Ihsan;
Celiloglu, Can;
Yuksel, Bilgin;
Topaloglu, Ali Kemal

Publication type:

Article

Expansion of the genotypic and phenotypic spectrum of CTCF‐related disorder guides clinical management: 43 new subjects and a comprehensive literature review.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 718, doi. 10.1002/ajmg.a.63065

By:

Valverde de Morales, Hannah Gabriela;
Wang, Hsiao‐Lin V.;
Garber, Kathryn;
Cheng, Xiaodong;
Corces, Victor G.;
Li, Hong

Publication type:

Article

Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 711, doi. 10.1002/ajmg.a.63064

By:

Luckett, Amelia;
Yousef, Muhammad;
Tifft, Cynthia;
Jenkins, Kisha;
Smith, Andrew;
Munoz, Andrea;
Quimby, Rachel;
Porter, Forbes D.;
Dang Do, An Ngoc

Publication type:

Article

Inversions on human chromosomes.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 672, doi. 10.1002/ajmg.a.63063

By:

Kosuthova, Klara;
Solc, Roman

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 657, doi. 10.1002/ajmg.a.62797
Publication type:: Article

Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 823, doi. 10.1002/ajmg.a.63061

By:

Pasquali, Daniela;
Torella, Annalaura;
Grandone, Anna;
Luongo, Caterina;
Morleo, Manuela;
Peduto, Cristina;
di Fraia, Rosa;
Selvaggio, Lucia Digitale;
Allosso, Francesca;
Accardo, Giacomo;
Zanobio, Maria Teresa;
Maitz, Silvia;
Mariani, Milena;
Selicorni, Angelo;
Banfi, Sandro;
Nigro, Vincenzo

Publication type:

Article

Pompe's Disease Successfully Treated In Utero.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 654, doi. 10.1002/ajmg.a.62795
Publication type:: Article

Personal social networks of people with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 690, doi. 10.1002/ajmg.a.63059

By:

Skotko, Brian G.;
Krell, Kavita;
Haugen, Kelsey;
Torres, Amy;
Nieves, Amber;
Dhand, Amar

Publication type:

Article

Superimposed mosaicism in cutaneous sarcoidosis: A hypothesis.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 899, doi. 10.1002/ajmg.a.63058

By:

Happle, Rudolf;
Wetzke, Martin

Publication type:

Article

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 699, doi. 10.1002/ajmg.a.63062

By:

Odgis, Jacqueline A.;
Gallagher, Katie M.;
Rehman, Atteeq U.;
Marathe, Priya N.;
Bonini, Katherine E.;
Sebastin, Monisha;
Di Biase, Miranda;
Brown, Kaitlyn;
Kelly, Nicole R.;
Ramos, Michelle A.;
Thomas‐Wilson, Amanda;
Guha, Saurav;
Okur, Volkan;
Ganapathi, Mythily;
Elkhoury, Lama;
Edelmann, Lisa;
Zinberg, Randi E.;
Abul‐Husn, Noura S.;
Diaz, George A.;
Greally, John M.

Publication type:

Article

New Mitochondrial Disease Identified In Monozygotic Twin Boys.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 655, doi. 10.1002/ajmg.a.62796
Publication type:: Article

Perspectives on the future of dysmorphology.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 659, doi. 10.1002/ajmg.a.63060

By:

Solomon, Benjamin D.;
Adam, Margaret P.;
Fong, Chin‐To;
Girisha, Katta M.;
Hall, Judith G.;
Hurst, Anna C. E.;
Krawitz, Peter M.;
Moosa, Shahida;
Phadke, Shubha R.;
Tekendo‐Ngongang, Cedrik;
Wenger, Tara L.

Publication type:

Article

Publication schedule for 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 653, doi. 10.1002/ajmg.a.62794
Publication type:: Article

Table of Contents, Volume 191A, Number 3, March 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 647, doi. 10.1002/ajmg.a.62793
Publication type:: Article