Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 1

Results: 48

The PORCN non‐Goltz spectrum (PONGOS): A new group of genetic disorders.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 13, doi. 10.1002/ajmg.a.61984

By:

Happle, Rudolf

Publication type:

Article

Corrigendum to "Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype. Am J Med Genet Part A. 2018;176(3):551‐559".

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 304, doi. 10.1002/ajmg.a.61944
Publication type:: Article

Clericuzio‐type poikiloderma with neutropenia in a patient from India.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 278, doi. 10.1002/ajmg.a.61943

By:

Bishnoi, Anuradha;
Jamwal, Manu;
Das, Reena;
Scaria, Vinod;
Vishwajeet, Vikarn;
De, Dipankar;
Saikia, Uma Nahar;
Mahajan, Rahul

Publication type:

Article

Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 261, doi. 10.1002/ajmg.a.61942

By:

Muthusamy, Karthik;
Hanna, Christian;
Johnson, Derek R.;
Cramer, Carl H.;
Tebben, Peter J.;
Libi, Sharon E.;
Poling, Gayla L.;
Lanpher, Brendan C.;
Morava, Eva;
Schimmenti, Lisa A.

Publication type:

Article

Craniocervical junction issues after infancy in achondroplasia.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 182, doi. 10.1002/ajmg.a.61941

By:

Smid, Cory J.;
Legare, Janet M.;
Modaff, Peggy;
Pauli, Richard M.

Publication type:

Article

Clinical aspects of a large group of adults with Angelman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 168, doi. 10.1002/ajmg.a.61940

By:

Besten, Inge;
Jong, Rianne F.;
Geerts‐Haages, Amber;
Bruggenwirth, Hennie T.;
Koopmans, Marije;
Brooks, Alice;
Elgersma, Ype;
Festen, Dederieke A. M.;
Valstar, Marlies J.

Publication type:

Article

Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 256, doi. 10.1002/ajmg.a.61939

By:

Casas‐Alba, Dídac;
López‐Sala, Laura;
Pérez‐Ordóñez, Marta;
Mari‐Vico, Rosanna;
Bolasell, Mercè;
Martínez‐Monseny, Antonio F.;
Muchart, Jordi;
Fernández‐Fernández, José M.;
Martorell, Loreto;
Serrano, Mercedes

Publication type:

Article

Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 250, doi. 10.1002/ajmg.a.61938

By:

Wawrocka, Anna;
Walczak‐Sztulpa, Joanna;
Pawlak, Marta;
Gotz‐Wieckowska, Anna;
Krawczynski, Maciej R.

Publication type:

Article

Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 242, doi. 10.1002/ajmg.a.61937

By:

Alesi, Viola;
Loddo, Sara;
Orlando, Valeria;
Genovese, Silvia;
Di Tommaso, Silvia;
Liambo, Maria Teresa;
Pompili, Daniele;
Ferretti, Daniele;
Calacci, Chiara;
Catino, Giorgia;
Falasca, Roberto;
Dentici, Maria Lisa;
Novelli, Antonio;
Digilio, Maria Cristina;
Dallapiccola, Bruno

Publication type:

Article

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 157, doi. 10.1002/ajmg.a.61936

By:

Simon, Mariella T.;
Eftekharian, Shaya S.;
Ferdinandusse, Sacha;
Tang, Sha;
Naseri, Take;
Reupena, Muagututi'a Sefuiva;
McGarvey, Stephen T.;
Minster, Ryan L.;
Weeks, Daniel E.;
Nguyen, Daniel D.;
Lee, Sansan;
Ellsworth, Katarzyna A.;
Vaz, Frédéric M.;
Dimmock, David;
Pitt, James;
Abdenur, Jose E.

Publication type:

Article

Lymphedema distichiasis syndrome may be caused by FOXC2 promoter‐enhancer dissociation and disruption of a topological associated domain.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 150, doi. 10.1002/ajmg.a.61935

By:

Wallis, Mathew;
Pope‐Couston, Rachel;
Mansour, Julia;
Amor, David J.;
Tang, Paisu;
Stock‐Myer, Sharyn

Publication type:

Article

A new case of osteogenesis imperfecta type VIII and retinal detachment.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 238, doi. 10.1002/ajmg.a.61934

By:

Souza, Liliane Todeschini;
Nunes, Ricardo Rodrigues;
Magalhães, Otavio;
Félix, Têmis

Publication type:

Article

Inherited intragenic PBX1 deletion: Expanding the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 234, doi. 10.1002/ajmg.a.61932

By:

Fitzgerald, Kristi K.;
Powell‐Hamilton, Nina;
Shillingford, Amanda J.;
Robinson, Bradley;
Gripp, Karen W.

Publication type:

Article

Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 141, doi. 10.1002/ajmg.a.61931

By:

Pater, Colleen M;
Gutmark‐Little, Iris;
Tretter, Justin T;
Martin, Lisa J;
Backeljauw, Philippe;
Brown, Nicole M

Publication type:

Article

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 134, doi. 10.1002/ajmg.a.61930

By:

Bosfield, Kerri;
Regier, Debra S.;
Viall, Sarah;
Hicks, Rebecca;
Shur, Natasha;
Grant, Christina L.

Publication type:

Article

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected parent.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 300, doi. 10.1002/ajmg.a.61929

By:

Su, Julia X.;
Velsher, Lea S.;
Juusola, Jane;
Nezarati, Marjan M.

Publication type:

Article

Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 228, doi. 10.1002/ajmg.a.61928

By:

Ritter, Alyssa;
Berger, Justin H.;
Deardorff, Matthew;
Izumi, Kosuke;
Lin, Kimberly Y.;
Medne, Livija;
Ahrens‐Nicklas, Rebecca C.

Publication type:

Article

Expanding the phenotype of biallelic loss‐of‐function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 282, doi. 10.1002/ajmg.a.61927

By:

Kato, Kohji;
Mizuno, Seiji;
Morton, Jenny;
Toyama, Miho;
Hara, Yuichiro;
Wasmer, Evangeline;
Lehmann, Alan;
Ogi, Tomoo

Publication type:

Article

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 119, doi. 10.1002/ajmg.a.61926

By:

Dyment, David A.;
O'Donnell‐Luria, Anne;
Agrawal, Pankaj B.;
Coban Akdemir, Zeynep;
Aleck, Kyrieckos A.;
Antaki, Danny;
Al Sharhan, Hind;
Au, Ping‐Yee B.;
Aydin, Hatip;
Beggs, Alan H.;
Bilguvar, Kaya;
Boerwinkle, Eric;
Brand, Harrison;
Brownstein, Catherine A.;
Buyske, Steve;
Chodirker, Bernard;
Choi, Jungmin;
Chudley, Albert E.;
Clericuzio, Carol L.;
Cox, Gerald F.

Publication type:

Article

Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 286, doi. 10.1002/ajmg.a.61924

By:

Santoro, Stephanie L.;
Chicoine, Brian;
Jasien, Joan M.;
Kim, Judy Lu;
Stephens, Mary;
Bulova, Peter;
Capone, George

Publication type:

Article

A new family with epiphyseal chondrodysplasia type Miura.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 112, doi. 10.1002/ajmg.a.61923

By:

Kenis, Vladimir;
Melchenko, Eugeniy;
Mazunin, Ilya;
Pekkinen, Minna;
Mäkitie, Outi

Publication type:

Article

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 267, doi. 10.1002/ajmg.a.61922

By:

Yu, Pui Tak;
Luk, Ho‐Ming;
Lo, Ivan F. M.

Publication type:

Article

Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 223, doi. 10.1002/ajmg.a.61921

By:

Pabst, Lisa;
Carroll, Jennifer;
Lo, Warren;
Truxal, Kristen V.

Publication type:

Article

Waiting for a diagnosis in Rubinstein–Taybi: The journey from "ignorance is bliss" to the value of "a label".

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 105, doi. 10.1002/ajmg.a.61920

By:

Withers, Chelsea M.;
Fleming, Jane;
Wallingford, Courtney K.;
Gabbett, Michael T.;
Peterson, Madelyn;
Humphreys, Linda;
McInerney‐Leo, Aideen

Publication type:

Article

Novel GLI3 pathogenic variants in complex pre‐ and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 97, doi. 10.1002/ajmg.a.61919

By:

Patel, Rashmi;
Singh, Subodh Kumar;
Bhattacharya, Visweswar;
Ali, Akhtar

Publication type:

Article

Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 274, doi. 10.1002/ajmg.a.61918

By:

Nilay, Mayank;
Moirangthem, Amita;
Saxena, Deepti;
Mandal, Kausik;
Phadke, Shubha R.

Publication type:

Article

Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 90, doi. 10.1002/ajmg.a.61917

By:

Bamborschke, Daniel;
Özdemir, Özkan;
Kreutzer, Mona;
Motameny, Susanne;
Thiele, Holger;
Kribs, Angela;
Dötsch, Jörg;
Altmüller, Janine;
Nürnberg, Peter;
Cirak, Sebahattin

Publication type:

Article

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 219, doi. 10.1002/ajmg.a.61916

By:

Lo Barco, Tommaso;
Osanni, Elisa;
Bordugo, Andrea;
Rodella, Giulia;
Iascone, Maria;
Tenconi, Romano;
Barone, Rita;
Dalla Bernardina, Bernardo;
Cantalupo, Gaetano

Publication type:

Article

Parenting stress in families of children with Prader–Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 83, doi. 10.1002/ajmg.a.61915

By:

Wong, Shi‐Bing;
Wang, Tzong‐Shi;
Tsai, Wen‐Hsin;
Tzeng, I‐Sheng;
Tsai, Li‐Ping

Publication type:

Article

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 213, doi. 10.1002/ajmg.a.61914

By:

Poskanzer, Sheri A.;
Schultz, Matthew J.;
Turgeon, Coleman T.;
Vidal‐Folch, Noemi;
Liedtke, Kris;
Oglesbee, Devin;
Gavrilov, Dimitar K.;
Tortorelli, Silvia;
Matern, Dietrich;
Rinaldo, Piero;
Bennett, James T.;
Thies, Jenny M.;
Chang, Irene J.;
Beck, Anita E.;
Raymond, Kimiyo;
Allenspach, Eric J.;
Lam, Christina

Publication type:

Article

Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 208, doi. 10.1002/ajmg.a.61913

By:

Armitage, Anna M.;
Kundra, Monica A.;
Ghiam, Neda;
Atwal, Paldeep S.;
Morel, Dayna;
Hruska, Kathleen S.;
Torene, Rebecca;
Harbour, J. William;
Forghani, Irman

Publication type:

Article

Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 73, doi. 10.1002/ajmg.a.61912

By:

Sabir, Ataf H.;
Sheikh, Jameela;
Singh, Ananya;
Morley, Elizabeth;
Cocca, Alessandra;
Cheung, Moira S.;
Irving, Melita

Publication type:

Article

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 68, doi. 10.1002/ajmg.a.61911

By:

Shur, Natasha;
Atabaki, Shireen M.;
Kisling, Monisha S.;
Tabarani, Abir;
Williams, Clarence;
Fraser, Jamie L.;
Regier, Debra;
Summar, Marshall

Publication type:

Article

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 203, doi. 10.1002/ajmg.a.61910

By:

D'Gama, Alissa M.;
England, Eleina;
Madden, Jill A.;
Shi, Jiahai;
Chao, Katherine R.;
Wojcik, Monica H.;
Torres, Alcy R.;
Tan, Wen‐Hann;
Berry, Gerard T.;
Prabhu, Sanjay P.;
Agrawal, Pankaj B.

Publication type:

Article

The role of novel COQ8B mutations in glomerulopathy and related kidney defects.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 60, doi. 10.1002/ajmg.a.61909

By:

AbuMaziad, Asmaa S.;
Thaker, Tarjani M.;
Tomasiak, Thomas M.;
Chong, Chyi Chyi;
Galindo, Maureen K.;
Hoyme, H. Eugene

Publication type:

Article

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 15, doi. 10.1002/ajmg.a.61907

By:

Crow, Yanick J;
Marshall, Heather;
Rice, Gillian I;
Seabra, Luis;
Jenkinson, Emma M;
Baranano, Kristin;
Battini, Roberta;
Berger, Andrea;
Blair, Edward;
Blauwblomme, Thomas;
Bolduc, Francois;
Boddaert, Natalie;
Buckard, Johannes;
Burnett, Heather;
Calvert, Sophie;
Caumes, Roseline;
Ng, Andy Cheuk‐Him;
Chiang, Diana;
Clifford, David B;
Cordelli, Duccio M

Publication type:

Article

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 190, doi. 10.1002/ajmg.a.61901

By:

Rips, Jonathan;
Mor‐Shaked, Hagar;
Erdin, Serkan;
Yanovsky‐Dagan, Shira;
Eventov‐Friedman, Smadar;
Harel, Tamar

Publication type:

Article

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 196, doi. 10.1002/ajmg.a.61905

By:

Tinker, Rory J;
Burghel, George J;
Garg, Shruti;
Steggall, Maggie;
Cuvertino, Sara;
Banka, Siddharth

Publication type:

Article

The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 46, doi. 10.1002/ajmg.a.61904

By:

Mimouni, Galit;
Merlob, Paul;
Mimouni, Francis B.;
Bin‐Nun, Alona

Publication type:

Article

Assessing physical symptoms, daily functioning, and well‐being in children with achondroplasia.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 33, doi. 10.1002/ajmg.a.61903

By:

Pfeiffer, Kathryn M.;
Brod, Meryl;
Smith, Alden;
Gianettoni, Jill;
Viuff, Dorthe;
Ota, Sho;
Charlton, R. Will

Publication type:

Article

Outcome of 45,X fetuses with cystic hygroma: A systematic review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 26, doi. 10.1002/ajmg.a.61902

By:

Levy, Ariel T.;
Berghella, Vincenzo;
Al‐Kouatly, Huda B.

Publication type:

Article

Parenting a child with Marfan syndrome: Distress and everyday problems.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 50, doi. 10.1002/ajmg.a.61906

By:

Warnink‐Kavelaars, Jessica;
Oers, Hedy A.;
Haverman, Lotte;
Buizer, Annemieke I.;
Alsem, Mattijs W.;
Engelbert, Raoul H. H.;
Menke, Leonie A.

Publication type:

Article

Cover Image, Volume 185A, Number 1, January 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. i, doi. 10.1002/ajmg.a.61643
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 11, doi. 10.1002/ajmg.a.61647
Publication type:: Article

Genetic Variants Account for About 14% of Cerebral Palsy Cases.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 9, doi. 10.1002/ajmg.a.61646
Publication type:: Article

Crispr Developers Win 2020 Nobel Prize for Chemistry.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 8, doi. 10.1002/ajmg.a.61645
Publication type:: Article

Publication schedule for 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 7, doi. 10.1002/ajmg.a.61644
Publication type:: Article

Table of Contents, Volume 185A, Number 1, January 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 1, doi. 10.1002/ajmg.a.61643
Publication type:: Article