Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 8

Results: 40

Further evidence supporting the role of DUT gene in diabetes with bone marrow failure syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2406, doi. 10.1002/ajmg.a.62771

By:

Ghawil, Millad;
Abdulrahman, Fathia;
Hadeed, Ibtisam;
Doggah, Milad;
Zarroug, Salem;
Habeb, Abdelhadi

Publication type:

Article

Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2367, doi. 10.1002/ajmg.a.62769

By:

Kahraman, Ayca Burcu;
Simsek‐Kiper, Pelin Ozlem;
Utine, Gulen Eda;
Boduroglu, Koray

Publication type:

Article

COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2339, doi. 10.1002/ajmg.a.62768

By:

Mishra, Ranjana;
Kulshreshtha, Samarth;
Mandal, Kausik;
Khurana, Ashok;
Diego‐Álvarez, Dan;
Pradas, Laura;
Saxena, Renu;
Phadke, Shubha;
Moirangthem, Amita;
Masih, Suzena;
Sud, Seema;
Verma, Ishwar Chander;
Dua Puri, Ratna

Publication type:

Article

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2479, doi. 10.1002/ajmg.a.62765

By:

Kortbawi, Hannah;
Ames, Elizabeth;
Pritchard, Amanda;
Devine, Patrick;
van Ziffle, Jessica;
Slavotinek, Anne

Publication type:

Article

Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2351, doi. 10.1002/ajmg.a.62763

By:

Mastromoro, Gioia;
Calcagni, Giulio;
Vignaroli, Walter;
Anaclerio, Silvia;
Pugnaloni, Flaminia;
Rinelli, Gabriele;
Secinaro, Aurelio;
Bordonaro, Veronica;
Putotto, Carolina;
Unolt, Marta;
Digilio, Maria Cristina;
Marino, Bruno;
Versacci, Paolo

Publication type:

Article

Corrigendum DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A. 2020;182(9):2049–2057. Doi:10.1002/ajmg.a.61729.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2512, doi. 10.1002/ajmg.a.62877
Publication type:: Article

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2376, doi. 10.1002/ajmg.a.62874

By:

Li, Jingjing;
Yang, Wei;
Wang, Yuejun Jessie;
Ma, Chen;
Curry, Cynthia J.;
McGoldrick, Daniel;
Nickerson, Deborah A.;
Chong, Jessica X.;
Blue, Elizabeth E.;
Mullikin, James C.;
Reefhuis, Jennita;
Nembhard, Wendy N.;
Romitti, Paul A.;
Werler, Martha M.;
Browne, Marilyn L.;
Olshan, Andrew F.;
Finnell, Richard H.;
Feldkamp, Marcia L.;
Pangilinan, Faith;
Almli, Lynn M.

Publication type:

Article

Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2466, doi. 10.1002/ajmg.a.62873

By:

Yagasaki, Hideaki;
Sano, Fumikazu;
Narusawa, Hiromune;
Watanabe, Daisuke;
Kaga, Yoshimi;
Kobayashi, Koji;
Asano, Yoshihiro;
Nagata, Miho;
Yonei, Ayumi;
Inukai, Takeshi

Publication type:

Article

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872

By:

Penon‐Portmann, Monica;
Eldomery, Mohammad K.;
Potocki, Lorraine;
Marafi, Dana;
Posey, Jennifer E.;
Coban‐Akdemir, Zeynep;
Harel, Tamar;
Grochowski, Christopher M.;
Loucks, Hailey;
Devine, Walter Patrick;
Van Ziffle, Jessica;
Doherty, Dan;
Lupski, James R.;
Shieh, Joseph T.

Publication type:

Article

Functional significance of novel variants of the MEF2C gene promoter in congenital ventricular septal defects.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2397, doi. 10.1002/ajmg.a.62871

By:

Zeng, Zhi‐Hua;
Chen, Huan‐Xin;
Liu, Xiao‐Cheng;
Yang, Qin;
He, Guo‐Wei

Publication type:

Article

Development of a multidisciplinary clinical approach for unexplained regression in Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2509, doi. 10.1002/ajmg.a.62870

By:

Stredny, Coral M.;
Hauptman, Aaron J.;
Sargado, Sabrina;
Soccorso, Cara;
Katz, Tamar;
Gorman, Mark P.;
Baumer, Nicole T.

Publication type:

Article

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2331, doi. 10.1002/ajmg.a.62866

By:

Weber, Mathilde;
Jaber, Dana;
Encha‐Razavi, Ferechte;
Julien, Emmanuel;
Grevoul‐Fesquet, Julie;
Steffann, Julie;
Melki, Judith;
Martinovic, Jelena

Publication type:

Article

A unique cardiovascular presentation of Marfan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2443, doi. 10.1002/ajmg.a.62865

By:

Otero Luna, Andrea;
Park, Kaylee B.;
Schauer, Jenna;
Castera, Mark;
Quintana Grijalba, Carolina;
Chikkabyrappa, Sathish Mallenahalli;
Tjoeng, Yuen Lie;
Romberg, Erin K.;
Olson, Aaron;
Glass, Ian A.;
Young, Luciana

Publication type:

Article

B‐cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2325, doi. 10.1002/ajmg.a.62864

By:

Verdoni, Angela M.;
Zilla, Megan L.;
Bullock, Grant;
Guinipero, Terri L.;
Meade, Julia;
Yatsenko, Svetlana A.

Publication type:

Article

Challenges in genetic diagnosis, co‐occurrence of 22q11.2 deletion syndrome and Noonan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2505, doi. 10.1002/ajmg.a.62862

By:

Chinton, Josefina;
Huckstadt, Victoria;
Foncuberta, Maria Eugenia;
Perez, Maria Mercedes;
Bonetto, Mara Cecilia;
Gravina, Luis Pablo;
Obregon, María Gabriela

Publication type:

Article

A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2438, doi. 10.1002/ajmg.a.62859

By:

Geiculescu, Irina;
Dranove, Jason;
Cosper, Graham;
Edmondson, Andrew C.;
Morava‐Kozicz, Eva;
Carter, Lauren B.

Publication type:

Article

A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2434, doi. 10.1002/ajmg.a.62857

By:

Franceschi, Roberto;
Iascone, Maria;
Maitz, Silvia;
Marchetti, Daniela;
Mariani, Milena;
Selicorni, Angelo;
Soffiati, Massimo;
Maines, Evelina

Publication type:

Article

Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2293, doi. 10.1002/ajmg.a.62854

By:

Varshney, Karan;
Iriowen, Rosemary;
Morrell, Kayla;
Pillay, Preshon;
Fossi, Alexander;
Stephens, Mary M.

Publication type:

Article

Brain cell signaling abnormalities are detected in blood in a murine model of Fragile X syndrome and corrected by Sigma‐1 receptor agonist Blarcamesine.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2497, doi. 10.1002/ajmg.a.62853

By:

Cogram, Patricia;
Deacon, Robert M. J.;
Klamer, Daniel;
Rebowe, Nell;
Sprouse, Jeffrey;
Reyes, Samantha T.;
Missling, Christopher U.;
Kaufmann, Walter E.

Publication type:

Article

Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2460, doi. 10.1002/ajmg.a.62851

By:

Alburaiky, Salam;
Taylor, Juliet;
O'Grady, Gina;
Thomson, Glen;
Perry, David;
England, Eleina M.;
Yap, Patrick

Publication type:

Article

A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin‐Siris syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2493, doi. 10.1002/ajmg.a.62849

By:

MacDonald, Stella K.;
Marshall, Aren E.;
Lemire, Gabrielle;
Hartley, Taila;
Kernohan, Kristin D.;
Boycott, Kym M.

Publication type:

Article

A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2315, doi. 10.1002/ajmg.a.62846

By:

Niehaus, Annie D.;
Rassbach, Caroline E.;
Stevenson, David A.

Publication type:

Article

Genetic testing to gain diagnostic clarity in neurofibromatosis type 2 and schwannomatosis.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2413, doi. 10.1002/ajmg.a.62845

By:

Burns, Rebecca;
Niendorf, Kristin;
Steinberg, Kathleen;
Mueller, Amy;
Ly, Ina;
Jordan, Justin T.;
Plotkin, Scott R.;
Hicks, Stephanie R.

Publication type:

Article

First reported cases with Xia‐Gibbs syndrome from India harboring novel variants in AHDC1.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2501, doi. 10.1002/ajmg.a.62844

By:

Danda, Sumita;
Datar, Chaitanya;
Kher, Archana;
Deshpande, Tanmay;
Thomas, Maya Mary;
Oommen, Samuel P.

Publication type:

Article

A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2429, doi. 10.1002/ajmg.a.62843

By:

Reyes Diaz, Jacqueline V.;
Jin, Yulin;
Garber, Kathryn;
Cossen, Kristina M.;
Li, Yujing;
Jin, Peng;
Li, Hong;
Ham, Jee‐Young Nina

Publication type:

Article

A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2421, doi. 10.1002/ajmg.a.62782

By:

Vincent, Krista Marie;
Stavropoulos, Dimitri J.;
Beaulieu‐Bergeron, Melanie;
Yang, Chen;
Jiang, Mary;
Zuijdwijk, Caroline;
Dyment, David A.;
Graham, Gail E.

Publication type:

Article

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations—A study of six unrelated families from India.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2454, doi. 10.1002/ajmg.a.62781

By:

Vishwanathan, Gurudatta Baraka;
Srinivasa, Manoj;
Batrani, Meenakshi;
Kubba, Asha;
Ghosh, Suparna;
Gupta, Divya;
Jayashankar, Charitha;
Rai, Abhigna;
Jangond, Ajith;
Inamadar, Arun;
Hiremagalore, Ravi

Publication type:

Article

A 40‐year follow‐up of a patient with Graham–Boyle–Troxell syndrome.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2491, doi. 10.1002/ajmg.a.62780
Publication type:: Article

Further phenotypic delineation of Alazami syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2485, doi. 10.1002/ajmg.a.62778

By:

Al‐Hinai, Abdulhamid;
Al‐Hashmi, Samiya;
Ganesh, Anuradha;
Al‐Hashmi, Nadia;
Al‐Saegh, Abeer;
Al‐Mamari, Watfa;
Al‐Murshedi, Fathiya;
Al‐Thihli, Khalid;
Al‐Kindi, Adila;
Al‐Maawali, Almundher

Publication type:

Article

Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2472, doi. 10.1002/ajmg.a.62777

By:

Yamada, Mamiko;
Suzuki, Hisato;
Miya, Fuyuki;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

Erratum.

Published in:: 2022
Publication type:: Correction Notice

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2389, doi. 10.1002/ajmg.a.62775

By:

Kaw, Anita;
Kaw, Kaveeta;
Hostetler, Ellen M.;
Beleza‐Meireles, Ana;
Smith‐Collins, Adam;
Armstrong, Catherine;
Scurr, Ingrid;
Cotts, Timothy;
Aatre, Rajani;
Bamshad, Michael J.;
Earl, Dawn;
Groner, Abraham;
Agre, Katherine;
Raveh, Yehuda;
Kwartler, Callie S.;
Milewicz, Dianna M.

Publication type:

Article

A systematic review and meta‐analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2277, doi. 10.1002/ajmg.a.62773

By:

Crow, Andrew J. D.;
Janssen, Jennica M.;
Marshall, Carolina;
Moffit, Anne;
Brennan, Laura;
Kohler, Christian G.;
Roalf, David R.;
Moberg, Paul J.

Publication type:

Article

A genome‐wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2303, doi. 10.1002/ajmg.a.62759

By:

Rashkin, Sara R.;
Cleves, Mario;
Shaw, Gary M.;
Nembhard, Wendy N.;
Nestoridi, Eirini;
Jenkins, Mary M.;
Romitti, Paul A.;
Lou, Xiang‐Yang;
Browne, Marilyn L.;
Mitchell, Laura E.;
Olshan, Andrew F.;
Lomangino, Kevin;
Bhattacharyya, Sudeepa;
Witte, John S.;
Hobbs, Charlotte A.

Publication type:

Article

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2448, doi. 10.1002/ajmg.a.62762

By:

Abdalla, Ebtesam;
Alawi, Malik;
Meinecke, Peter;
Kutsche, Kerstin;
Harms, Frederike L.

Publication type:

Article

Remembering Norio Niikawa, MD, PHD.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2274, doi. 10.1002/ajmg.a.62310
Publication type:: Article

In Memoriam: Norio Niikawa, MD, PHD (1942–2022).

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2273, doi. 10.1002/ajmg.a.62309
Publication type:: Article

Publication schedule for 2022.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2272, doi. 10.1002/ajmg.a.62308
Publication type:: Article

Table of Contents, Volume 188A, Number 8 August 2022.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2267, doi. 10.1002/ajmg.a.62307
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2276, doi. 10.1002/ajmg.a.62311
Publication type:: Article