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
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
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
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
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
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
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
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
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
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
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