Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 11

Results: 29

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3184, doi. 10.1002/ajmg.a.62967

By:

Kumar, Runjun D.;
Meng, Linyan;
Liu, Pengfei;
Miyake, Christina Y.;
Worley, Kim C.;
Bi, Weimin;
Lalani, Seema R.

Publication type:

Article

Elements of morphology: Standard terminology for the trunk and limbs.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3191, doi. 10.1002/ajmg.a.62965

By:

Biesecker, Leslie G.;
Adam, Margaret P.;
Chung, Brian Hon‐Yin;
Kosaki, Kenjiro;
Menke, Leonie A.;
White, Susan M.;
Carey, John C.;
Hennekam, Raoul C. M.

Publication type:

Article

Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3312, doi. 10.1002/ajmg.a.62956

By:

Ron, Hayley A.;
Scobell, Rebecca;
Strong, Amy;
Salazar, Elizabeth G.;
Ganetzky, Rebecca

Publication type:

Article

Delineating the CCDC22‐related Ritscher–Schinzel syndrome phenotype in the original family.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3324, doi. 10.1002/ajmg.a.62963

By:

Rodgers, Jonathan;
Richmond, Christopher M.;
McGaughran, Julie

Publication type:

Article

Biallelic CACNA1A variants: Review of literature and report of a child with drug‐resistant epilepsy and developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3306, doi. 10.1002/ajmg.a.62960

By:

Wong‐Spracklen, Vivien M. Y.;
Kolesnik, Anna;
Eck, Josefine;
Sabanathan, Saras;
Spasic‐Boskovic, Olivera;
Maw, Anna;
Baker, Kate

Publication type:

Article

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3229, doi. 10.1002/ajmg.a.62959

By:

İli, Ezgi Gökpınar;
Gezdirici, Alper;
Di Pietro, Erminia;
Yergeau, Christine;
Braverman, Nancy

Publication type:

Article

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3153, doi. 10.1002/ajmg.a.62957

By:

Natale, Mónica Inés;
Manzur, Graciela Beatriz;
Lusso, Silvina Beatriz;
Cella, Eliana;
Giovo, María Elsa;
Andrada, Romina;
Goitia, Juana;
Fernández, María Florencia;
Della Giovanna, Patricia Silvia;
Guillamondegui, María José;
Domínguez, Mariángeles;
Gutiérrez, Olga;
Izquierdo, Agustín;
Hernández Herrera, Heliana;
Velázquez Perdomo, Luz Graciela;
Mistchenko, Alicia Susana;
Valinotto, Laura Elena

Publication type:

Article

Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3242, doi. 10.1002/ajmg.a.62955

By:

Swarts, Jessie W.;
Kleimeier, Lotte E. R.;
Leenders, Erika K. S. M;
Rinne, Tuula;
Klein, Willemijn M.;
Draaisma, Jos M. T.

Publication type:

Article

Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3318, doi. 10.1002/ajmg.a.62961

By:

Lukas, Meyer‐Landolt;
Harald, Gaspar;
Sanz, Javier;
Trippel, Mafalda;
Sabina, Gallati;
Jochen, Rössler

Publication type:

Article

First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3343, doi. 10.1002/ajmg.a.62954

By:

Ravel, Jean‐Marie;
Comel, Margot;
Wandzel, Marion;
Bronner, Myriam;
Tatopoulos, Aurélie;
Renaud, Mathilde;
Lambert, Laëtitia;
Bursztejn, Anne‐Claire;
Bonnet, Céline

Publication type:

Article

Phenotypic variability in RERE‐related disorders and the first report of an inherited variant.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3358, doi. 10.1002/ajmg.a.62952

By:

Niehaus, Annie D.;
Kim, Jenny;
Manning, Melanie A.

Publication type:

Article

Expanding the phenotype of TAB2 variants and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3331, doi. 10.1002/ajmg.a.62949

By:

Woods, Emily;
Marson, Imogen;
Coci, Emanuele;
Spiller, Michael;
Kumar, Ajith;
Brady, Angela;
Homfray, Tessa;
Fisher, Richard;
Turnpenny, Peter;
Rankin, Julia;
Kanani, Farah;
Platzer, Konrad;
Ververi, Athina;
Emmanouilidou, Eleftheria;
Bourboun, Nourxan;
Giannakoulas, George;
Balasubramanian, Meena

Publication type:

Article

Assessing co‐occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3162, doi. 10.1002/ajmg.a.62948

By:

Raffaele, Gabriella;
Blout Zawatsky, Carrie L.;
Cottrell, Clorinda;
Santoro, Stephanie L.

Publication type:

Article

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3262, doi. 10.1002/ajmg.a.62946

By:

Baker, Elizabeth K.;
Solivio, Beulah;
Pode‐Shakked, Ben;
Cross, Laura Ann;
Sullivan, Bonnie;
Raas‐Rothschild, Annick;
Chorin, Odelia;
Barel, Ortal;
Bar‐Yosef, Omer;
Husami, Ammar;
Hopkin, Robert J.;
Prada, Carlos E.;
Stottmann, Rolf W.;
Weaver, Kathryn Nicole

Publication type:

Article

Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3172, doi. 10.1002/ajmg.a.62945

By:

Ahimaz, Priyanka;
Kramer, Tamar;
Swaroop, Pooja;
Mitchell, McKenzie;
Hernan, Rebecca;
Anyane‐Yeboa, Kwame;
Pereira, Elaine M.

Publication type:

Article

Hypothesis: Symbrachydactyly.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3236, doi. 10.1002/ajmg.a.62941

By:

Holmes, Lewis B.;
Nasri, Hanah Z.

Publication type:

Article

Further clinical delineation of microcephaly‐capillary malformation syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3350, doi. 10.1002/ajmg.a.62936

By:

Postma, Julianne K.;
Zambonin, Jessica L.;
Khouj, Ebtissal;
Alyamani, Suad;
Graham, John M.;
Alkuraya, Fowzan S.;
Kundell, Stephen;
Carter, Melissa T.

Publication type:

Article

Are SHROOM4 loss‐of‐function variants pathogenic?

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3374, doi. 10.1002/ajmg.a.62935

By:

Peduto, Cristina;
Piluso, Giulio;
Nigro, Vincenzo;
Brunetti‐Pierri, Nicola

Publication type:

Article

Re: Best et al., 'Unlocking the potential of the UK 100,000 Genomes Project – Lessons learned from analysis of the "Congenital malformations caused by ciliopathies" cohort'.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3376, doi. 10.1002/ajmg.a.62909

By:

Brown, Matthew A.;
Wigley, Christopher;
Walker, Susan;
Lancaster, Deborah;
Rendon, Augusto;
Scott, Richard

Publication type:

Article

Table of Contents, Volume 188A, Number 11 November 2022.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3143, doi. 10.1002/ajmg.a.62325
Publication type:: Article

All Grown up and No Place to go.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3148, doi. 10.1002/ajmg.a.62327
Publication type:: Article

Phenotypic expansion of ARSK‐related mucopolysaccharidosis.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3369, doi. 10.1002/ajmg.a.62934

By:

Rustad, Cecilie F.;
Prescott, Trine E.;
Merckoll, Else;
Kristensen, Erle;
Salvador, Cathrin L.;
Nordgarden, Hilde;
Tveten, Kristian

Publication type:

Article

Quality of life of Brazilian families who have children with Rubinstein–Taybi syndrome: An exploratory cross‐sectional study.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3294, doi. 10.1002/ajmg.a.62914

By:

Vale, Amanda Rodrigues;
de Avó, Lucimar Retto da Silva;
Pilotto, Rui Fernando;
Germano, Carla Maria Ramos;
Melo, Débora Gusmão

Publication type:

Article

New Genetic Variants Underlying East Asian Facial Morphology.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3149, doi. 10.1002/ajmg.a.62328
Publication type:: Article

Prader–Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3278, doi. 10.1002/ajmg.a.62928

By:

Butler, Merlin G.;
Cowen, Neil;
Bhatnagar, Anish

Publication type:

Article

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3364, doi. 10.1002/ajmg.a.62923

By:

Hannah, William B.;
Ryan, Katherine;
Pendyal, Surekha;
Burrow, T. Andrew;
Harley, Susan E.;
Cordell, Miranda;
McCall, Chad M.;
Mavis, Alisha M.;
Tan, Queenie K.‐G.;
Kishnani, Priya S.

Publication type:

Article

Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3287, doi. 10.1002/ajmg.a.62917

By:

Leoni, Chiara;
Giorgio, Valentina;
Stella, Giuseppe;
Onesimo, Roberta;
Triumbari, Elizabeth K. A.;
Podagrosi, Maria;
Kuczynska, Eliza;
Vollono, Catello;
Lindley, Keith J.;
Zampino, Giuseppe

Publication type:

Article

Publication schedule for 2022.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3147, doi. 10.1002/ajmg.a.62326
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3151, doi. 10.1002/ajmg.a.62329
Publication type:: Article