Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 11

Results: 55

Cover Image, Volume 182A, Number 11, November 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. i, doi. 10.1002/ajmg.a.61500
Publication type:: Article

Cover Image, Volume 182A, Number 11, November 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. i, doi. 10.1002/ajmg.a.61500
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2478, doi. 10.1002/ajmg.a.61894
Publication type:: Article

Bacterial Toxin Enables Mitochondrial Genome Editing.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2476, doi. 10.1002/ajmg.a.61864
Publication type:: Article

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2781, doi. 10.1002/ajmg.a.61851

By:

Pillai, Nishitha R.;
Amin, Hitha;
Gijavanekar, Charul;
Liu, Ning;
Issaq, Niveen;
Broniowska, Katarzyna A.;
Bertuch, Alison A.;
Sutton, V. Reid;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

Massive parallel sequencing of dried umbilical cord remnants.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2778, doi. 10.1002/ajmg.a.61850

By:

Sennaiyan, Usha Nandhini;
Phani, Nagaraj M;
Deepak, Vuppu;
Appaswamy, Giridharan;
Krishna, Mani Ram

Publication type:

Article

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2773, doi. 10.1002/ajmg.a.61849

By:

Chacon‐Camacho, Oscar F.;
Arce‐Gonzalez, Rocio;
Ordaz‐Robles, Thania;
Perezpeña‐Diazconti, Mario;
Nava‐Castañeda, Angel;
Zenteno, Juan Carlos

Publication type:

Article

Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2765, doi. 10.1002/ajmg.a.61848

By:

Wu, Dengchang;
Ji, Caihong;
Chen, Zhongqin;
Wang, Kang

Publication type:

Article

Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2646, doi. 10.1002/ajmg.a.61847

By:

Adam, Aaron P.;
Curry, Cynthia J.;
Hall, Judith G.;
Keppler‐Noreuil, Kim M.;
Adam, Margaret P.;
Dobyns, William B.

Publication type:

Article

A novel splice variant expands the LAMC3‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2761, doi. 10.1002/ajmg.a.61846

By:

Kasper, Burkhard S.;
Kraus, Cornelia;
Schwarz, Michael;
Rösch, Julie;
Thiel, Christian T.;
Reis, André;
Zweier, Christiane

Publication type:

Article

Ophthalmological abnormalities in Down syndrome among Brazilian patients.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2641, doi. 10.1002/ajmg.a.61845

By:

Bermudez, Beatriz Elizabeth Bagatin Veleda;
Souza do Amaral, Maria Eduarda;
Silva Gomes, Charles;
Novadzki, Iolanda Maria;
Oliveira, Camila Maciel;
Serpe, Crislaine Caroline

Publication type:

Article

The first reported case of Loeys‐Dietz syndrome in a patient with biallelic SMAD3 variants.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2755, doi. 10.1002/ajmg.a.61844

By:

Baskin, Stephanie M.;
Morris, Shaine A.;
Vara, Autumn;
Hecht, Jacqueline T.;
Farach, Laura S.

Publication type:

Article

Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2632, doi. 10.1002/ajmg.a.61843

By:

Shayota, Brian J.;
Zhang, Chaofan;
Shypailo, Roman J.;
Mazzeu, Juliana F.;
Carvalho, Claudia M. B.;
Sutton, V. Reid

Publication type:

Article

Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2751, doi. 10.1002/ajmg.a.61842

By:

Slater, Brady;
Glinton, Kevin;
Dai, Hongzheng;
Lay, Erica;
Karaviti, Lefkothea;
Mizerik, Elizabeth;
Murali, Chaya N.;
Lalani, Seema R.;
Bacino, Carlos A.;
Rossetti, Linda Z.

Publication type:

Article

Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2624, doi. 10.1002/ajmg.a.61841

By:

Glaeser, Andressa Barreto;
Santos, Andressa Schneiders;
Diniz, Bruna Lixinski;
Deconte, Desireé;
Rosa, Rafael Fabiano Machado;
Zen, Paulo Ricardo Gazzola

Publication type:

Article

Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2746, doi. 10.1002/ajmg.a.61840

By:

Macchiaiolo, Marina;
Panfili, Filippo Maria;
Gonfiantini, Michaela Veronika;
Mastrogiorgio, Gerarda;
Buonuomo, Paola Sabrina;
Gaspari, Stefania;
Longo, Daniela;
Zollino, Marcella;
Bartuli, Andrea

Publication type:

Article

Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2742, doi. 10.1002/ajmg.a.61839

By:

Valenzuela, Irene;
Codina, Marta;
Fernández‐Álvarez, Paula;
Mur, Pilar;
Valle, Laura;
Tizzano, Eduardo F.;
Cuscó, Ivon

Publication type:

Article

7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2737, doi. 10.1002/ajmg.a.61838

By:

Rieger, Melissa;
Krumbiegel, Mandy;
Reuter, Miriam S.;
Schützenberger, Anne;
Reis, André;
Zweier, Christiane

Publication type:

Article

Use of complementary therapies for chronic pain management in patients with reported Ehlers‐Danlos syndrome or hypermobility spectrum disorders.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2611, doi. 10.1002/ajmg.a.61837

By:

Demes, Jessica S.;
McNair, Bryan;
Taylor, Matthew R.G.

Publication type:

Article

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2605, doi. 10.1002/ajmg.a.61836

By:

Hakonen, Anna H.;
Lehtonen, Johanna;
Kivirikko, Sirpa;
Keski‐Filppula, Riikka;
Moilanen, Jukka;
Kivisaari, Reetta;
Almusa, Henrikki;
Jakkula, Eveliina;
Saarela, Janna;
Avela, Kristiina;
Aittomäki, Kristiina

Publication type:

Article

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2570, doi. 10.1002/ajmg.a.61829

By:

Al‐Sulaiman, Reem;
Othman, Amna;
El‐Akouri, Karen;
Fareed, Shehab;
AlMulla, Hajer;
Sukik, Aseel;
Al‐Mureikhi, Mariam;
Shahbeck, Noora;
Ali, Rehab;
Al‐Mesaifri, Fatma;
Musa, Sara;
Al‐Mulla, Mariam;
Ibrahim, Khalid;
Mohamed, Khalid;
Al‐Nesef, Maryam Ali;
Ehlayel, Mohammad;
Ben‐Omran, Tawfeg

Publication type:

Article

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2731, doi. 10.1002/ajmg.a.61835

By:

Sihombing, Nydia Rena Benita;
Winarni, Tri Indah;
Bokhoven, Hans;
Burgt, Ineke;
Leeuw, Nicole;
Faradz, Sultana M. H.

Publication type:

Article

Patient with an autosomal‐recessive MBTPS1‐linked phenotype and clinical features of Silver–Russell syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2727, doi. 10.1002/ajmg.a.61833

By:

Meyer, Robert;
Elbracht, Miriam;
Opladen, Thomas;
Eggermann, Thomas

Publication type:

Article

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2722, doi. 10.1002/ajmg.a.61832

By:

Gana, Simone;
Plumari, Massimo;
Rossi, Elena;
Saracino, Annalisa;
Iorio, Melanie;
Zanaboni, Martina Paola;
Orcesi, Simona;
Valente, Enza Maria

Publication type:

Article

Corrigendum to "Preaxial polydactyly in an individual with Wiedemann‐Steiner syndrome caused by a novel nonsense mutation in KMT2A. Am J Med Genet Part A. 2017;173A:2821–2,825".

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2805, doi. 10.1002/ajmg.a.61831
Publication type:: Article

Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2581, doi. 10.1002/ajmg.a.61830

By:

Oluwafemi, Omobola O.;
Benjamin, Renata H.;
Navarro Sanchez, Maria Luisa;
Scheuerle, Angela E.;
Schaaf, Christian P.;
Mitchell, Laura E.;
Langlois, Peter H.;
Canfield, Mark A.;
Swartz, Michael D.;
Scott, Daryl A.;
Northrup, Hope;
Ray, Joseph W.;
McLean, Scott D.;
Ludorf, Katherine L.;
Chen, Han;
Lupo, Philip J.;
Agopian, A.J.

Publication type:

Article

Prevalence rates study of selected isolated non‐Mendelian congenital anomalies in the Hutterite population of Alberta, 1980–2016.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2594, doi. 10.1002/ajmg.a.61834

By:

Lowry, R. Brian;
Bedard, Tanya;
Crawford, Susan;
Grevers, Xin;
Bernier, François P.;
Thomas, Mary Ann

Publication type:

Article

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2788, doi. 10.1002/ajmg.a.61828

By:

Lee, Cha Gon;
Seol, Chang Ahn;
Ki, Chang‐Seok

Publication type:

Article

Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2552, doi. 10.1002/ajmg.a.61827

By:

Bathen, Trine;
Krohg‐Sørensen, Kirsten;
Lidal, Ingeborg B.

Publication type:

Article

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2793, doi. 10.1002/ajmg.a.61826

By:

Schneeberger, Pauline E.;
Nayak, Shalini S.;
Fuchs, Sigrid;
Kutsche, Kerstin;
Girisha, Katta M.

Publication type:

Article

Natural history of achondroplasia: A retrospective review of longitudinal clinical data.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2540, doi. 10.1002/ajmg.a.61825

By:

Okenfuss, Ericka;
Moghaddam, Billur;
Avins, Andrew L.

Publication type:

Article

Chromoanasynthesis as a cause of Jacobsen syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2533, doi. 10.1002/ajmg.a.61824

By:

Anzick, Sarah;
Thurm, Audrey;
Burkett, Sandra;
Velez, Daniel;
Cho, Elena;
Chlebowski, Colby;
Virtaneva, Kimmo;
Bruno, Daniel;
Martin, Clare B.;
Lang, David M.;
Brooks, Brian;
Martens, Craig;
McDermott, David H.;
Murphy, Philip M.

Publication type:

Article

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2529, doi. 10.1002/ajmg.a.61822

By:

Suzuki, Hisato;
Yamada, Mamiko;
Uehara, Tomoko;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2800, doi. 10.1002/ajmg.a.61821

By:

Ciaccio, Claudia;
Cellini, Elena;
Guerrini, Renzo;
Pantaleoni, Chiara;
Masson, Riccardo

Publication type:

Article

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2715, doi. 10.1002/ajmg.a.61817

By:

Travessa, André M.;
Díaz‐González, Francisca;
Mirco, Teresa;
Oliveira‐Ramos, Filipa;
Parrón‐Pajares, Manuel;
Heath, Karen E.;
Sousa, Ana Berta

Publication type:

Article

Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2709, doi. 10.1002/ajmg.a.61816

By:

Yamada, Mamiko;
Uehara, Tomoko;
Suzuki, Hisato;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2704, doi. 10.1002/ajmg.a.61815

By:

Ames, Elizabeth G.;
Scott, Anthony J.;
Pappas, Kara B.;
Moloney, Shawn M.;
Conway, Robert L.;
Ahmad, Ayesha

Publication type:

Article

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2521, doi. 10.1002/ajmg.a.61814

By:

Stevenson, Mark;
Pagnamenta, Alistair T.;
Reichart, Silvia;
Philpott, Charlotte;
Lines, Kate E.;
Gorvin, Caroline M.;
Lhotta, Karl;
Taylor, Jenny C.;
Thakker, Rajesh V.

Publication type:

Article

Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2508, doi. 10.1002/ajmg.a.61813

By:

Cross, Esther;
Duncan‐Flavell, Philippa J.;
Howarth, Rachel J.;
Hobbs, James I.;
Thomas, Nicholas Simon;
Bunyan, David J.

Publication type:

Article

Impact of Costello syndrome on growth patterns.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2797, doi. 10.1002/ajmg.a.61812

By:

Leoni, Chiara;
Giorgio, Valentina;
Onesimo, Roberta;
Kuczynska, Eliza;
Zampino, Giuseppe

Publication type:

Article

Limb overgrowth associated with a mosaic TSC2 second‐hit in tuberous sclerosis complex.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2803, doi. 10.1002/ajmg.a.61811

By:

Tessarech, Marine;
Malinge, Marie‐Claire;
Carmignac, Virginie;
Vabres, Pierre;
Petit, Florence

Publication type:

Article

Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2479, doi. 10.1002/ajmg.a.61810

By:

Peron, Angela;
La Briola, Francesca;
Bruschi, Fabio;
Terraneo, Silvia;
Vannicola, Chiara;
Previtali, Roberto;
Perazzoli, Sabrina;
Morenghi, Emanuela;
Bulfamante, Gaetano;
Vignoli, Aglaia;
Canevini, Maria Paola

Publication type:

Article

Bosley–Salih–Alorainy syndrome in patients from India.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2699, doi. 10.1002/ajmg.a.61809

By:

Patil, Siddaramappa J.;
Karthik, Gadabanahalli Ashok;
Bhavani, Gandham SriLakshmi;
Bhat, Venkatraman;
Matalia, Jyoti;
Shah, Jhanvi;
Shukla, Anju;
Girisha, Katta Mohan

Publication type:

Article

EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2501, doi. 10.1002/ajmg.a.61808

By:

Younger, Georgianne;
Vetrini, Francesco;
Weaver, David D.;
Lynnes, Ty C.;
Treat, Kayla;
Pratt, Victoria M.;
Torres‐Martinez, Wilfredo

Publication type:

Article

Tremor is a major feature of 9p13 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2694, doi. 10.1002/ajmg.a.61807

By:

Ferreira, Susana Isabel;
Cinnirella, Giacomo;
Ramos, Lina;
Suppa, Antonio;
Pires, Luís Miguel;
Nardone, Anna Maria;
Camerota, Letizia;
Lanciotti, Silvia;
Galasso, Cinzia;
De Maio, Fernando;
Melo, Joana Barbosa;
Carreira, Isabel Marques;
Brancati, Francesco

Publication type:

Article

Genotype–phenotype correlation of 33 patients with maple syrup urine disease.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2486, doi. 10.1002/ajmg.a.61806

By:

Khalifa, Ola A.;
Imtiaz, Faiqa;
Ramzan, Khushnooda;
Zaki, Osama;
Gamal, Radwa;
Elbaik, Lina;
Rihan, Shaimaa;
Salam, Ehab;
Abdul‐Mawgoud, Rehab;
Hassan, Magdy;
Hassan, Nahla;
Saleh, Eman;
Seoudi, Dina;
Moustafa, Amr S.

Publication type:

Article

The deregulation of NOTCH pathway, inflammatory cytokines, and keratinization genes in two Dowling–Degos disease patients with hidradenitis suppurativa.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2662, doi. 10.1002/ajmg.a.61800

By:

Penha, Ricardo;
Cortez de Almeida, Rita Fernanda;
Mariz, Juliana;
Lisboa, Lilian;
Barbosa, Lívia;
da Silva, Roberto

Publication type:

Article

Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2680, doi. 10.1002/ajmg.a.61804

By:

Habhab, Wisam;
Mau‐Holzmann, Ulrike;
Singer, Sylke;
Rieß, Angelika;
Kagan, Karl‐Oliver;
Gerbig, Ines;
Schäferhoff, Karin;
Dufke, Andreas;
Kehrer, Martin

Publication type:

Article

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2675, doi. 10.1002/ajmg.a.61803

By:

Rizzi, Susanna;
Spagnoli, Carlotta;
Salerno, Grazia Gabriella;
Frattini, Daniele;
Caraffi, Stefano Giuseppe;
Trimarchi, Gabriele;
Moratti, Claudio;
Pascarella, Rosario;
Garavelli, Livia;
Fusco, Carlo

Publication type:

Article

Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2671, doi. 10.1002/ajmg.a.61802

By:

Arvio, Maria;
Lähdetie, Jaana

Publication type:

Article