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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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