Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 10

Results: 41

Cover Image, Volume 182A, Number 10, October 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, 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. 10, p. 2206, doi. 10.1002/ajmg.a.61863
Publication type:: Article

Canada's Supreme Court Upholds Law to Prevent Genetic Discrimination.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2204, doi. 10.1002/ajmg.a.61862
Publication type:: Article

Growth charts for individuals with Coffin‐Siris syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2253, doi. 10.1002/ajmg.a.61823

By:

McCague, Emily A.;
Lamichhane, Rajan;
Holt, Nicole;
Schrier Vergano, Samantha A.

Publication type:

Article

Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2359, doi. 10.1002/ajmg.a.61799

By:

Grondin, Steffany;
Wazirian, Avedis‐Christ;
Jorda, Paloma;
Terrone, Donato G.;
Gagnon, Johannie;
Robb, Laura;
Amyot, Julie;
Rivard, Lena;
Pagé, Sylvain;
Talajic, Mario;
Cadrin‐Tourigny, Julia;
Tadros, Rafik

Publication type:

Article

Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2461, doi. 10.1002/ajmg.a.61798

By:

Wei, Heming;
Tan, Ee‐Shien;
Jamuar, Saumya;
Lai, Angeline H. M.;
Ng, Ivy;
Tan, Ene‐Choo

Publication type:

Article

Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2230, doi. 10.1002/ajmg.a.61797

By:

Bezuidenhout, Heidre;
Bayley, Samantha;
Smit, Liani;
Kinnear, Craig;
Möller, Marlo;
Uren, Caitlin;
Urban, Michael F.

Publication type:

Article

Vestibular and audiological findings in the Alport syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2345, doi. 10.1002/ajmg.a.61796

By:

Barozzi, Stefania;
Soi, Daniela;
Intieri, Elisabetta;
Giani, Marisa;
Aldè, Mirko;
Tonon, Eleonora;
Signorini, Lia;
Renieri, Alessandra;
Fallerini, Chiara;
Perin, Paola;
Montini, Giovanni;
Ambrosetti, Umberto

Publication type:

Article

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2207, doi. 10.1002/ajmg.a.61795

By:

Andelman‐Gur, Michal M.;
Leventer, Richard J;
Hujirat, Mohammad;
Ganos, Christos;
Yosovich, Keren;
Carmi, Nirit;
Lev, Dorit;
Nissenkorn, Andreea;
Dobyns, William B.;
Bhatia, Kailash;
Lerman‐Sagie, Tally;
Blumkin, Lubov

Publication type:

Article

Trichothiodystrophy type 4 in an Indian family.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2226, doi. 10.1002/ajmg.a.61794

By:

Pande, Shruti;
Shukla, Anju;
Girisha, Katta Mohan

Publication type:

Article

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2333, doi. 10.1002/ajmg.a.61793

By:

Murakami, Hiroaki;
Tsurusaki, Yoshinori;
Enomoto, Keisuke;
Kuroda, Yukiko;
Yokoi, Takayuki;
Furuya, Noritaka;
Yoshihashi, Hiroshi;
Minatogawa, Mari;
Abe‐Hatano, Chihiro;
Ohashi, Ikuko;
Nishimura, Naoto;
Kumaki, Tatsuro;
Enomoto, Yumi;
Naruto, Takuya;
Iwasaki, Fuminori;
Harada, Noriaki;
Ishikawa, Aki;
Kawame, Hiroshi;
Sameshima, Kiyoko;
Yamaguchi, Yu

Publication type:

Article

Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2442, doi. 10.1002/ajmg.a.61792

By:

Muthusamy, Karthik;
Macke, Erica L.;
Klee, Eric W.;
Tebben, Peter J.;
Hand, Jennifer L.;
Hasadsri, Linda;
Marcou, Cherisse A.;
Schimmenti, Lisa A.

Publication type:

Article

3D facial morphometry in Italian patients affected by Aicardi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2325, doi. 10.1002/ajmg.a.61791

By:

Masnada, Silvia;
Gibelli, Daniele;
Dolci, Claudia;
De Giorgis, Valentina;
Cappella, Annalisa;
Veggiotti, Pierangelo;
Sforza, Chiarella

Publication type:

Article

Sleep‐disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2437, doi. 10.1002/ajmg.a.61790

By:

Baelen, Amber;
Verhoustraeten, Louise;
Kenis, Sandra;
Meuwissen, Marije;
Boudewyns, An;
Hoorenbeeck, Kim;
Verhulst, Stijn

Publication type:

Article

Neurological phenotype of Potocki–Lupski syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2317, doi. 10.1002/ajmg.a.61789

By:

Ciaccio, Claudia;
Pantaleoni, Chiara;
Milani, Donatella;
Alfei, Enrico;
Sciacca, Francesca L.;
Canafoglia, Laura;
Erbetta, Alessandra;
D'Arrigo, Stefano

Publication type:

Article

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2432, doi. 10.1002/ajmg.a.61788

By:

Zhang, Mengshu;
Lu, Likui;
Wei, Bin;
Zhang, Yingying;
Li, Xiang;
Shi, Yajun;
Ge, Wei;
Sun, Miao

Publication type:

Article

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2297, doi. 10.1002/ajmg.a.61787

By:

Foreman, Pamela K.;
Kessel, Femke;
Hoorn, Rosa;
Bosch, Judith;
Shediac, Renée;
Landis, Sarah

Publication type:

Article

Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2426, doi. 10.1002/ajmg.a.61786

By:

Xiao, Changrui;
Astiazaran‐Symonds, Esteban;
Basu, Shrabani;
Kisling, Monisha;
Scaglia, Fernando;
Chapman, Kimberly A.;
Wang, Yudong;
Vockley, Jerry;
Ferreira, Carlos R.

Publication type:

Article

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2417, doi. 10.1002/ajmg.a.61785

By:

Walczak‐Sztulpa, Joanna;
Wawrocka, Anna;
Leszczynska, Beata;
Mikulska, Boyana;
Arts, Heleen H.;
Bukowska‐Olech, Ewelina;
Daniel, Maria;
Krawczynski, Maciej R.;
Latos‐Bielenska, Anna;
Obersztyn, Ewa

Publication type:

Article

A case of rare isolated agnathia and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2409, doi. 10.1002/ajmg.a.61784

By:

Alexander, Nicole L.;
Chandy, Binoy;
Barton, Geran;
Liu, Yi‐Chun Carol

Publication type:

Article

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2291, doi. 10.1002/ajmg.a.61783

By:

Mis, Emily K.;
Al‐Ali, Samir;
Ji, Weizhen;
Spencer‐Manzon, Michele;
Konstantino, Monica;
Khokha, Mustafa K.;
Jeffries, Lauren;
Lakhani, Saquib A.

Publication type:

Article

Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2214, doi. 10.1002/ajmg.a.61782

By:

Velasco, Harvy M.;
Ullah, Ehsan;
Martin, Angela M.;
Hufnagel, Robert B.;
Prada, Carlos E.

Publication type:

Article

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2403, doi. 10.1002/ajmg.a.61781

By:

Ashraf, Tazeen;
Vaina, Camelia;
Giri, Dinesh;
Burren, Christine P.;
James, Margaret;
Offiah, Amaka C.;
Overton, Timothy;
Baptista, Julia;
Ellard, Sian;
Smithson, Sarah F.

Publication type:

Article

A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin–angiotensin pathway, without renal tubular dysgenesis.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2284, doi. 10.1002/ajmg.a.61780

By:

Dilliott, Allison A.;
Wang, Jian;
Brown, Emma;
Singh, Gagandeep;
Shkrum, Michael J.;
Clin, Madeleine;
Rupar, Charles Anthony;
Hegele, Robert A.;
Siu, Victoria Mok

Publication type:

Article

Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2454, doi. 10.1002/ajmg.a.61779

By:

D'Amours, Guylaine;
Brunel‐Guitton, Catherine;
Delrue, Marie‐Ange;
Dubois, Josée;
Laberge, Sophie;
Soucy, Jean‐François

Publication type:

Article

Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2222, doi. 10.1002/ajmg.a.61778

By:

Pacio Miguez, Marta;
Santos‐Simarro, Fernando;
García‐Miñaúr, Sixto;
Velázquez Fragua, Ramón;
Pozo, Ángela;
Solís, Mario;
Jiménez Rodríguez, Carmen;
Rufo‐Rabadán, Virginia;
Fernandez, Victoria Eugenia;
Rueda, Inmaculada;
Gomez del Pozo, Maria Victoria;
Gallego, Natividad;
Lapunzina, Pablo;
Palomares‐Bralo, María

Publication type:

Article

An additional case of Néstor‐Guillermo progeria syndrome diagnosed in early childhood.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2399, doi. 10.1002/ajmg.a.61777

By:

Fisher, Heather G.;
Patni, Nivedita;
Scheuerle, Angela E.

Publication type:

Article

Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2391, doi. 10.1002/ajmg.a.61776

By:

Masoudi, Maryam;
Bereshneh, Ali Hosseini;
Rasoulinezhad, Maryam;
Ashrafi, Mahmoud Reza;
Garshasbi, Masoud;
Tavasoli, Ali Reza

Publication type:

Article

Behavior and cognitive functioning in Witteveen–Kolk syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2384, doi. 10.1002/ajmg.a.61775

By:

Dongen, Linde C. M.;
Wingbermühle, Ellen;
Dingemans, Alexander J. M.;
Bos‐Roubos, Anja G.;
Vermeulen, Karlijn;
Pop‐Purceleanu, Monica;
Kleefstra, Tjitske;
Egger, Jos I. M.

Publication type:

Article

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2377, doi. 10.1002/ajmg.a.61773

By:

Farnè, Marianna;
Tedesco, Giovanna M.;
Bedetti, Chiara;
Mencarelli, Amedea;
Rogaia, Daniela;
Colavito, Davide;
Di Cara, Giuseppe;
Stangoni, Gabriela;
Troiani, Stefania;
Ferlini, Alessandra;
Prontera, Paolo

Publication type:

Article

Immediate and 6‐week after effects of a rehabilitation program for Ehlers–Danlos syndrome hypermobile type patients: A retrospective study.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2263, doi. 10.1002/ajmg.a.61772

By:

Hakimi, Adrien;
Bergoin, Cyrille;
Mucci, Patrick

Publication type:

Article

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2372, doi. 10.1002/ajmg.a.61771

By:

Rossi‐Espagnet, Maria C.;
Dentici, Maria L.;
Pasquini, Luca;
Carducci, Chiara;
Lucignani, Martina;
Longo, Daniela;
Agolini, Emanuele;
Novelli, Antonio;
Gonfiantini, Michaela V.;
Digilio, Maria C.;
Napolitano, Antonio;
Bartuli, Andrea

Publication type:

Article

Indian child with novel variant in OFD1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2236, doi. 10.1002/ajmg.a.61768

By:

Panigrahi, Inusha;
Ahuja, Chirag;
Chaudhry, Chakshu

Publication type:

Article

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2272, doi. 10.1002/ajmg.a.61765

By:

Donkervoort, Sandra;
Mohassel, Payam;
Laugwitz, Lucia;
Zaki, Maha S.;
Kamsteeg, Erik‐Jan;
Maroofian, Reza;
Chao, Katherine R.;
Verschuuren‐Bemelmans, Corien C.;
Horber, Veronka;
Fock, Annemarie J. M.;
McCarty, Riley M.;
Jain, Minal S.;
Biancavilla, Victoria;
McMacken, Grace;
Nalls, Matthew;
Voermans, Nicol C.;
Elbendary, Hasnaa M.;
Snyder, Molly;
Cai, Chunyu;
Lehky, Tanya J.

Publication type:

Article

Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2369, doi. 10.1002/ajmg.a.61764

By:

Lee, Bo Hoon;
Mongiovi, Phillip;
Levade, Thierry;
Marston, Bethany;
Mountain, Joan;
Ciafaloni, Emma

Publication type:

Article

Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2450, doi. 10.1002/ajmg.a.61762

By:

Bamborschke, Daniel;
Daimagüler, Hülya‐Sevcan;
Hahn, Andreas;
Hussain, Muhammad S.;
Nürnberg, Peter;
Cirak, Sebahattin

Publication type:

Article

Knobloch syndrome in a patient from Chile.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2239, doi. 10.1002/ajmg.a.61760

By:

Nakousi‐Capurro, Nicole;
Huserman, Jonathan;
Castillo, Silvia;
Herrera, Luisa;
Romero, Pablo;
Pizarro, Felipe;
Quezada, Cristian;
Cea, Francisco

Publication type:

Article

Ocular measurements in fetal alcohol spectrum disorders.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2243, doi. 10.1002/ajmg.a.61759

By:

Gomez, Diego A.;
May, Philip A.;
Tabachnick, Barbara G.;
Hasken, Julie M.;
Lyden, Elizabeth R.;
Kalberg, Wendy O.;
Hoyme, H. Eugene;
Manning, Melanie A.;
Adam, Margaret P.;
Robinson, Luther K.;
Jones, Kenneth Lyons;
Buckley, David;
Abdul‐Rahman, Omar A.

Publication type:

Article

Risk Variant for Severe COVID‐19 Inherited from Neanderthals.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2203, doi. 10.1002/ajmg.a.61247
Publication type:: Article

Publication schedule for 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2202, doi. 10.1002/ajmg.a.61246
Publication type:: Article

Table of Contents, Volume 182A, Number 10, October 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2197, doi. 10.1002/ajmg.a.61245
Publication type:: Article