Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 3

Results: 38

In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 424, doi. 10.1002/ajmg.a.61502
Publication type:
Article
Phenotype‐Based Criteria Increases Diagnostic Impact of Exome Sequencing in Neonates.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 422, doi. 10.1002/ajmg.a.61501
Publication type:
Article
Cover Image, Volume 182A, Number 3, March 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 1, doi. 10.1002/ajmg.a.61500
Publication type:
Article
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 493, doi. 10.1002/ajmg.a.61484
By:
- Prasov, Lev;
- Ullah, Ehsan;
- Turriff, Amy E.;
- Warner, Blake M.;
- Conley, Julie;
- Mark, Paul R.;
- Hufnagel, Robert B.;
- Huryn, Laryssa A.
Publication type:
Article
Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 425, doi. 10.1002/ajmg.a.61476
By:
- Diaz, Jullianne;
- Kane, Timothy D.;
- Leon, Eyby
Publication type:
Article
Holoprosencephaly in Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 441, doi. 10.1002/ajmg.a.61454
By:
- Daly, Tara;
- Roberts, Abra;
- Yang, Edward;
- Mochida, Ganeshwaran H.;
- Bodamer, Olaf
Publication type:
Article
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 591, doi. 10.1002/ajmg.a.61463
By:
- Voet, Julie;
- Ceulemans, Berten;
- Kooy, Frank;
- Meuwissen, Marije E. C.
Publication type:
Article
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 484, doi. 10.1002/ajmg.a.61459
By:
- McGillis, Laura;
- Mittal, Nimish;
- Santa Mina, Daniel;
- So, Joyce;
- Soowamber, Medha;
- Weinrib, Aliza;
- Soever, Leslie;
- Rozenberg, Dmitry;
- Liu, Louis;
- Tse, Yvonne;
- Katz, Joel;
- Charames, George S;
- Murphy, Kieran;
- Vadas, Peter;
- Slepian, Maxwell P;
- Walsh, Scott;
- Wilson, Lindsay;
- Adler, Arnon;
- Franzese, Alyssa;
- Hussey, Laura
Publication type:
Article
Genetic Consultations in the Newborn.
Published in:
2020
By:
- Lebedoff, Amy N.;
- Carey, John C.
Publication type:
Book Review
Estimated birth prevalence of mucopolysaccharidoses in Brazil.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 469, doi. 10.1002/ajmg.a.61456
By:
- Federhen, Andressa;
- Pasqualim, Gabriela;
- Freitas, Talita Freitas;
- Gonzalez, Esteban Alberto;
- Trapp, Franciele;
- Matte, Ursula;
- Giugliani, Roberto
Publication type:
Article
A family affair—Severe fetal and neonatal hemolytic anemia due to novel alpha‐spectrin mutations in two siblings.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 561, doi. 10.1002/ajmg.a.61455
By:
- Donepudi, Roopali;
- Westerfield, Lauren;
- Stonecipher, Ashley;
- A. Nassr, Ahmed;
- Cortes, Magdalena S.;
- Espinoza, Jimmy;
- Belfort, Michael;
- Shamshirsaz, Alireza
Publication type:
Article
Growth charts in Kabuki syndrome 1.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 446, doi. 10.1002/ajmg.a.61462
By:
- Ruault, Valentin;
- Corsini, Carole;
- Duflos, Claire;
- Akouete, Sandrine;
- Georgescu, Véra;
- Abaji, Mario;
- Alembick, Yves;
- Alix, Eudeline;
- Amiel, Jeanne;
- Amouroux, Cyril;
- Barat‐Houari, Mouna;
- Baumann, Clarisse;
- Bonnard, Adeline;
- Boursier, Guilaine;
- Boute, Odile;
- Burglen, Lydie;
- Busa, Tiffany;
- Cordier, Marie‐Pierre;
- Cormier‐Daire, Valérie;
- Delrue, Marie‐Ange
Publication type:
Article
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 536, doi. 10.1002/ajmg.a.61453
By:
- Preiksaitiene, Egle;
- Voisin, Norine;
- Gueneau, Lucie;
- Benušienė, Eglė;
- Krasovskaja, Natalija;
- Blažytė, Evelina Marija;
- Ambrozaitytė, Laima;
- Rančelis, Tautvydas;
- Reymond, Alexandre;
- Kučinskas, Vaidutis
Publication type:
Article
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 557, doi. 10.1002/ajmg.a.61452
By:
- Abreu, Nicolas J.;
- Koboldt, Daniel C.;
- Gastier‐Foster, Julie M.;
- Dave‐Wala, Ashita;
- Flanigan, Kevin M.;
- Waldrop, Megan A.
Publication type:
Article
Renpenning syndrome in a female.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 498, doi. 10.1002/ajmg.a.61451
By:
- Cho, Raymond Y.;
- Peñaherrera, Maria S.;
- Du Souich, Christele;
- Huang, Lijia;
- Mwenifumbo, Jill;
- Nelson, Tanya N.;
- Elliott, Alison M.;
- Adam, Shelin;
- Eydoux, Patrice;
- Yang, Gui X.;
- Chijiwa, Chieko;
- Van Allen, Margot I.;
- Friedman, Jan M.;
- Robinson, Wendy P.;
- Lehman, Anna
Publication type:
Article
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 513, doi. 10.1002/ajmg.a.61450
By:
- Mendelsohn, Bryce A.;
- Beleford, Daniah T.;
- Abu‐El‐Haija, Aya;
- Alsaleh, Norah S.;
- Rahbeeni, Zuhair;
- Martin, Pierre‐Marie;
- Rego, Shannon;
- Huang, Alyssa;
- Capodanno, Gina;
- Shieh, Joseph T.;
- Van Ziffle, Jessica;
- Risch, Neil;
- Alkuraya, Fowzan S.;
- Slavotinek, Anne M.
Publication type:
Article
Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 553, doi. 10.1002/ajmg.a.61449
By:
- Callaghan, Mary B.;
- Hadden, Rob;
- King, Jon S.;
- Lachlan, Katherine;
- Dijk, Fleur S.;
- Turnpenny, Peter D.
Publication type:
Article
Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 532, doi. 10.1002/ajmg.a.61448
By:
- Akahoshi, Shogo;
- Hirano, Akinori;
- Nagamine, Hiroki;
- Miura, Masaru
Publication type:
Article
Autosomal dominant inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 548, doi. 10.1002/ajmg.a.61446
By:
- Latchman, Kumarie;
- Calder, Madison;
- Morel, Dayna;
- Rhodes, Lindsay;
- Juusola, Jane;
- Tekin, Mustafa
Publication type:
Article
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 576, doi. 10.1002/ajmg.a.61444
By:
- Wei, Heming;
- Krishnappa, Janardhan;
- Lin, Grace;
- Kavalloor, Nirmal;
- Lim, Jiin Ying;
- Goh, Chew‐Yin Jasmine;
- Jamuar, Saumya Shekhar;
- Thomas, Terrence;
- Tan, Ene Choo
Publication type:
Article
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 595, doi. 10.1002/ajmg.a.61443
By:
- Louie, Raymond J.;
- Friez, Michael J.;
- Skinner, Cindy;
- Baraitser, Michael;
- Clark, Robin D.;
- Schwartz, Charles E.;
- Stevenson, Roger E.
Publication type:
Article
A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate‐pair sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 543, doi. 10.1002/ajmg.a.61442
By:
- Miller, Danny E.;
- Squire, Audrey;
- Bennett, James T.
Publication type:
Article
Nephronophthisis due to a novel DCDC2 variant in a patient from African‐Caribbean descent: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 527, doi. 10.1002/ajmg.a.61440
By:
- Slater, Brady;
- Bekheirnia, Nasim;
- Angelo, Joseph;
- Bi, Weimen;
- Braun, Michael C.;
- Bekheirnia, Mir Reza
Publication type:
Article
TFE3‐associated neurodevelopmental disorder: A distinct recognizable syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 584, doi. 10.1002/ajmg.a.61437
By:
- Diaz, Jullianne;
- Berger, Seth;
- Leon, Eyby
Publication type:
Article
Catel–Manzke syndrome without Manzke dysostosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 437, doi. 10.1002/ajmg.a.61436
By:
- Miller, Danny E.;
- Chow, Penny;
- Gallagher, Emily R.;
- Perkins, Jonathan A.;
- Wenger, Tara L.
Publication type:
Article
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 570, doi. 10.1002/ajmg.a.61435
By:
- Koehler, Katrin;
- Schuelke, Markus;
- Hell, Anna K.;
- Schittkowski, Michael;
- Huebner, Angela;
- Brockmann, Knut
Publication type:
Article
The sixth international RASopathies symposium: Precision medicine—From promise to practice.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 597, doi. 10.1002/ajmg.a.61434
By:
- Gripp, Karen W.;
- Schill, Lisa;
- Schoyer, Lisa;
- Stronach, Beth;
- Bennett, Anton M.;
- Blaser, Susan;
- Brown, Amanda;
- Burdine, Rebecca;
- Burkitt‐Wright, Emma;
- Castel, Pau;
- Darilek, Sandra;
- Dias, Alwyn;
- Dyer, Tuesdi;
- Ellis, Michelle;
- Erickson, Gregg;
- Gelb, Bruce D.;
- Green, Tamar;
- Gross, Andrea;
- Ho, Alan;
- Holder, James Lloyd
Publication type:
Article
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 521, doi. 10.1002/ajmg.a.61432
By:
- Yamamoto‐Shimojima, Keiko;
- Imaizumi, Taichi;
- Akagawa, Hiroyuki;
- Kanno, Hitoshi;
- Yamamoto, Toshiyuki
Publication type:
Article
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 508, doi. 10.1002/ajmg.a.61431
By:
- Giuffrida, Maria G.;
- Mastromoro, Gioia;
- Guida, Valentina;
- Truglio, Mauro;
- Fabbretti, Maria;
- Torres, Barbara;
- Mazza, Tommaso;
- De Luca, Alessandro;
- Roggini, Mario;
- Bernardini, Laura;
- Pizzuti, Antonio
Publication type:
Article
Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 461, doi. 10.1002/ajmg.a.61424
By:
- Yirmiya, Erez T.;
- Mekori‐Domachevsky, Ehud;
- Weinberger, Ronnie;
- Taler, Michal;
- Carmel, Miri;
- Gothelf, Doron
Publication type:
Article
Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 454, doi. 10.1002/ajmg.a.61422
By:
- Yamamoto, Kenichi;
- Kubota, Takuo;
- Takeyari, Shinji;
- Kitaoka, Taichi;
- Miyata, Kei;
- Nakano, Yukako;
- Nakayama, Hirofumi;
- Ohata, Yasuhisa;
- Yanagi, Kumiko;
- Kaname, Tadashi;
- Okada, Yukinori;
- Ozono, Keiichi
Publication type:
Article
TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 431, doi. 10.1002/ajmg.a.61419
By:
- Boschann, Felix;
- Stuurman, Kyra E.;
- Bruin, Christiaan;
- Slegtenhorst, Marjon;
- Duyvenvoorde, Hermine A.;
- Kant, Sarina G.;
- Ehmke, Nadja
Publication type:
Article
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 504, doi. 10.1002/ajmg.a.61415
By:
- Grocott, Olivia;
- Phanor, Sabrina K.;
- Fung, France;
- Thibert, Ronald L.;
- Berkmen, Melanie B.
Publication type:
Article
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 579, doi. 10.1002/ajmg.a.61413
By:
- Duker, Angela L.;
- Niiler, Timothy;
- Kinderman, Dagmar;
- Schouten, Monica;
- Poll‐The, Bwee Tien;
- Braverman, Nancy;
- Bober, Michael B.
Publication type:
Article
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384
By:
- Tessarech, Marine;
- Gorce, Magali;
- Boussion, Françoise;
- Bault, Jean‐Philippe;
- Triau, Stéphane;
- Charif, Majida;
- Khiaty, Salim;
- Delorme, Benoit;
- Guichet, Agnès;
- Ziegler, Alban;
- Bris, Céline;
- Laquerrière, Annie;
- Fallet‐Bianco, Catherine;
- Jacquette, Aurélia;
- Salhi, Houria;
- Héron, Delphine;
- Reynier, Pascal;
- Procaccio, Vincent;
- Bonneau, Dominique;
- Colin, Estelle
Publication type:
Article
New Definition of Unexplained Regression in Down Syndrome Proposed.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 421, doi. 10.1002/ajmg.a.61226
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 420, doi. 10.1002/ajmg.a.61225
Publication type:
Article
Table of Contents, Volume 182A, Number 3, March 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 415, doi. 10.1002/ajmg.a.61224
Publication type:
Article