Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 6

Results: 45

Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a FLNA gene mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1710, doi. 10.1002/ajmg.a.38230
By:
- Carrera‐García, Laura;
- Rivas‐Crespo, Maximiliano Francisco;
- Fernández García, María Soledad
Publication type:
Article
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1611, doi. 10.1002/ajmg.a.38231
By:
- Lacaria, Melanie;
- Srour, Myriam;
- Michaud, Jacques L.;
- Doja, Asif;
- Miller, Elka;
- Schwartzentruber, Jeremy;
- Goldsmith, Claire;
- Majewski, Jacek;
- Boycott, Kym M.
Publication type:
Article
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1586, doi. 10.1002/ajmg.a.38232
By:
- Wigby, Kristen;
- Twigg, Stephen R. F.;
- Broderick, Ryan;
- Davenport, Katherine P.;
- Wilkie, Andrew O. M.;
- Bickler, Stephen W.;
- Jones, Marilyn C.
Publication type:
Article
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1625, doi. 10.1002/ajmg.a.38233
By:
- Perez, Dorian;
- Hsieh, David T.;
- Rohena, Luis
Publication type:
Article
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1607, doi. 10.1002/ajmg.a.38234
By:
- Carmona, Susana;
- da Luz Freitas, Maria;
- Froufe, Hugo;
- Simões, Maria José;
- Sampaio, Maria João;
- Silva, Eduardo D.;
- Egas, Conceição
Publication type:
Article
Three families with mild PMM2-CDG and normal cognitive development.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1620, doi. 10.1002/ajmg.a.38235
By:
- Vals, Mari‐Anne;
- Morava, Eva;
- Teeäär, Kai;
- Zordania, Riina;
- Pajusalu, Sander;
- Lefeber, Dirk J.;
- Õunap, Katrin
Publication type:
Article
Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1663, doi. 10.1002/ajmg.a.38204
By:
- Gilman, Jordana L.;
- Newman, Heather A.;
- Freeman, Rebecca;
- Singh, Kathryn E.;
- Puckett, Rebecca L.;
- Morohashi, David K.;
- Stein, Constance;
- Palomino, Kathryn;
- Lebel, Robert Roger;
- Kimonis, Virginia E.
Publication type:
Article
Recurrence of congenital heart defects among siblings-a nationwide study.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1575, doi. 10.1002/ajmg.a.38237
By:
- Brodwall, Kristoffer;
- Greve, Gottfried;
- Leirgul, Elisabeth;
- Tell, Grethe S.;
- Vollset, Stein E.;
- Øyen, Nina
Publication type:
Article
In this issue.
Published in:
2017
Publication type:
Other
Cover Image, Volume 173A, Number 6, June 2017.
Published in:
2017
By:
- Takenouchi, Toshiki;
- Miwa, Tomoru;
- Sakamoto, Yoshiaki;
- Sakaguchi, Yuri;
- Uehara, Tomoko;
- Takahashi, Takao;
- Kosaki, Kenjiro
Publication type:
Other
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1502, doi. 10.1002/ajmg.a.38189
By:
- Ferreira, Carlos R.;
- Whitehead, Matthew T.;
- Leon, Eyby
Publication type:
Article
Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1687, doi. 10.1002/ajmg.a.38200
By:
- Hollander, Seth A.;
- Alsaleh, Norah;
- Ruzhnikov, Maura;
- Jensen, Kristen;
- Rosenthal, David N.;
- Stevenson, David A.;
- Manning, Melanie
Publication type:
Article
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1714, doi. 10.1002/ajmg.a.38239
By:
- Blakeley, Jaishri O.;
- Bakker, Annette;
- Barker, Anne;
- Clapp, Wade;
- Ferner, Rosalie;
- Fisher, Michael J.;
- Giovannini, Marco;
- Gutmann, David H.;
- Karajannis, Matthias A.;
- Kissil, Joseph L.;
- Legius, Eric;
- Lloyd, Alison C.;
- Packer, Roger J.;
- Ramesh, Vijaya;
- Riccardi, Vincent M.;
- Stevenson, David A.;
- Ullrich, Nicole J.;
- Upadhyaya, Meena;
- Stemmer‐Rachamimov, Anat
Publication type:
Article
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1649, doi. 10.1002/ajmg.a.38205
By:
- Barone, Rita;
- Fichera, Marco;
- De Grandi, Mariaclara;
- Battaglia, Marta;
- Lo Faro, Valeria;
- Mattina, Teresa;
- Rizzo, Renata
Publication type:
Article
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1690, doi. 10.1002/ajmg.a.38206
By:
- Huynh, Minh Tuan;
- Boudry‐Labis, Elise;
- Duban, Bénédicte;
- Andrieux, Joris;
- Tran, Cong Toai;
- Tampere, Heidi;
- Ceraso, Delphine;
- Manouvrier, Sylvie;
- Tachdjian, Gérard;
- Roche‐Lestienne, Catherine;
- Vincent‐Delorme, Catherine
Publication type:
Article
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1514, doi. 10.1002/ajmg.a.38208
By:
- Alkhunaizi, Ebba;
- Schrewe, Brett;
- Alizadehfar, Reza;
- Vézina, Catherine;
- Stewart, Grant S.;
- Braverman, Nancy
Publication type:
Article
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1694, doi. 10.1002/ajmg.a.38209
By:
- Schoner, Katharina;
- Bald, Rainer;
- Horn, Denise;
- Rehder, Helga;
- Kornak, Uwe;
- Ehmke, Nadja
Publication type:
Article
Table of Contents, Volume 173A, Number 6, June 2017.
Published in:
2017
Publication type:
Other
Publication schedule for 2017.
Published in:
2017
Publication type:
Other
Newborn screening for spinal muscular atrophy: The views of affected families and adults.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1546, doi. 10.1002/ajmg.a.38220
By:
- Boardman, Felicity K.;
- Young, Philip J.;
- Griffiths, Frances E.
Publication type:
Article
Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy?
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1562, doi. 10.1002/ajmg.a.38221
By:
- Afridi, Shazia K.;
- Thomson, Suki;
- Connor, Steve E. J.;
- Walsh, Daniel C.;
- Ferner, Rosalie E.
Publication type:
Article
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1566, doi. 10.1002/ajmg.a.38228
By:
- Moss, Joanna;
- Penhallow, Jessica;
- Ansari, Morad;
- Barton, Stephanie;
- Bourn, David;
- FitzPatrick, David R.;
- Goodship, Judith;
- Hammond, Peter;
- Roberts, Catherine;
- Welham, Alice;
- Oliver, Chris
Publication type:
Article
Thomas H. Shepard, M.D., pioneer in embryology and teratology.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1465, doi. 10.1002/ajmg.a.38103
By:
- Fantel, Alan G.;
- Polifka, Janine E.;
- Oakley, Godfrey P.
Publication type:
Article
Reanalyzing exomes may be worthwhile.
Published in:
2017
Publication type:
Other
Revisions to common rule regarding human research issued.
Published in:
2017
Publication type:
Other
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1656, doi. 10.1002/ajmg.a.38171
By:
- Sagar, Angela;
- Pinto, Dalila;
- Najjar, Fedra;
- Guter, Stephen J.;
- Macmillan, Carol;
- Cook, Edwin H.
Publication type:
Article
A further family of Stromme syndrome carrying CENPF mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1668, doi. 10.1002/ajmg.a.38173
By:
- Ozkinay, Ferda;
- Atik, Tahir;
- Isik, Esra;
- Gormez, Zeliha;
- Sagiroglu, Mahmut;
- Sahin, Ozlem Atan;
- Corduk, Nergul;
- Onay, Huseyin
Publication type:
Article
Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1489, doi. 10.1002/ajmg.a.38190
By:
- Liu, Dongjing;
- Wang, Hong;
- Schwender, Holger;
- Marazita, Mary L.;
- Wang, Zhuqing;
- Yuan, Yuan;
- Wang, Ping;
- Liang, Kung Yee;
- Wu‐Chou, Yah Huei;
- Wang, Mengying;
- Shi, Bing;
- Zhu, Hongping;
- Wu, Tao;
- Beaty, Terri H.
Publication type:
Article
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1601, doi. 10.1002/ajmg.a.38240
By:
- Huijmans, Jan G. M.;
- Schot, Rachel;
- de Klerk, Johannis B. C.;
- Williams, Monique;
- de Coo, René F. M.;
- Duran, Marinus;
- Verheijen, Frans W.;
- van Slegtenhorst, Marjon;
- Mancini, Grazia M. S.
Publication type:
Article
Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1467, doi. 10.1002/ajmg.a.38243
By:
- Ritter, Alyssa;
- Atzinger, Carrie;
- Hays, Brandon;
- James, Jeanne;
- Shikany, Amy;
- Neilson, Derek;
- Martin, Lisa;
- Weaver, Kathryn Nicole
Publication type:
Article
Lissencephaly: Expanded imaging and clinical classification.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1473, doi. 10.1002/ajmg.a.38245
By:
- Di Donato, Nataliya;
- Chiari, Sara;
- Mirzaa, Ghayda M.;
- Aldinger, Kimberly;
- Parrini, Elena;
- Olds, Carissa;
- Barkovich, A. James;
- Guerrini, Renzo;
- Dobyns, William B.
Publication type:
Article
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1631, doi. 10.1002/ajmg.a.38126
By:
- Takenouchi, Toshiki;
- Miwa, Tomoru;
- Sakamoto, Yoshiaki;
- Sakaguchi, Yuri;
- Uehara, Tomoko;
- Takahashi, Takao;
- Kosaki, Kenjiro
Publication type:
Article
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1640, doi. 10.1002/ajmg.a.38127
By:
- Albanyan, Saleh;
- Al Teneiji, Amal;
- Monfared, Nasim;
- Mercimek‐Mahmutoglu, Saadet
Publication type:
Article
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1593, doi. 10.1002/ajmg.a.38241
By:
- Yu, Andrea C.;
- Zambrano, Regina M.;
- Cristian, Ingrid;
- Price, Sue;
- Bernhard, Birgitta;
- Zucker, Marc;
- Venkateswaran, Sunita;
- McGowan‐Jordan, Jean;
- Armour, Christine M.
Publication type:
Article
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1495, doi. 10.1002/ajmg.a.38191
By:
- Crosson, Jane;
- Srivastava, Siddharth;
- Bibat, Genila M.;
- Gupta, Siddharth;
- Kantipuly, Aditi;
- Smith‐Hicks, Constance;
- Myers, Scott M.;
- Sanyal, Abanti;
- Yenokyan, Gayane;
- Brenner, Joel;
- Naidu, Sakkubai R.
Publication type:
Article
Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1673, doi. 10.1002/ajmg.a.38192
By:
- Douglas, Chad;
- Smith, Stephen A.;
- Rohena, Luis
Publication type:
Article
Novel MCA/ID syndrome with ASH1L mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1644, doi. 10.1002/ajmg.a.38193
By:
- Okamoto, Nobuhiko;
- Miya, Fuyuki;
- Tsunoda, Tatsuhiko;
- Kato, Mitsuhiro;
- Saitoh, Shinji;
- Yamasaki, Mami;
- Kanemura, Yonehiro;
- Kosaki, Kenjiro
Publication type:
Article
Clinical features of trisomy 12 mosaicism-Report and review.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1681, doi. 10.1002/ajmg.a.38194
By:
- Hong, Bo;
- Zunich, Janice;
- Openshaw, Amanda;
- Toydemir, Reha M.
Publication type:
Article
Cranial irradiation in childhood mimicking neurofibromatosis type II.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1635, doi. 10.1002/ajmg.a.38211
By:
- Bokstein, Felix;
- Dubov, Tom;
- Toledano‐Alhadef, Hagit;
- Bernstein‐Molho, Rinat;
- Constantini, Shlomi;
- Evans, D. Gareth;
- Ben‐Shachar, Shay
Publication type:
Article
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1698, doi. 10.1002/ajmg.a.38215
By:
- McInerney‐Leo, Aideen M.;
- Wheeler, Lawrie;
- Marshall, Mhairi S.;
- Anderson, Lisa K.;
- Zankl, Andreas;
- Brown, Matthew A.;
- Leo, Paul J.;
- Wicking, Carol;
- Duncan, Emma L.
Publication type:
Article
Erratum to Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1722, doi. 10.1002/ajmg.a.38216
Publication type:
Article
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1531, doi. 10.1002/ajmg.a.38210
By:
- Leslie, Elizabeth J.;
- Carlson, Jenna C.;
- Shaffer, John R.;
- Buxó, Carmen J.;
- Castilla, Eduardo E.;
- Christensen, Kaare;
- Deleyiannis, Frederic W. B.;
- Field, Leigh L.;
- Hecht, Jacqueline T.;
- Moreno, Lina;
- Orioli, Ieda M.;
- Padilla, Carmencita;
- Vieira, Alexandre R.;
- Wehby, George L.;
- Feingold, Eleanor;
- Weinberg, Seth M.;
- Murray, Jeffrey C.;
- Marazita, Mary L.
Publication type:
Article
Variable phenotype in a novel mutation in PHOX2B.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1705, doi. 10.1002/ajmg.a.38218
By:
- Lombardo, Rachel C.;
- Kramer, Elizabeth;
- Cnota, James F.;
- Sawnani, Hemant;
- Hopkin, Robert J.
Publication type:
Article
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1521, doi. 10.1002/ajmg.a.38212
By:
- Santoro, Claudia;
- Di Rocco, Federico;
- Kossorotoff, Manoelle;
- Zerah, Michel;
- Boddaert, Nathalie;
- Calmon, Raphael;
- Vidaud, Dominique;
- Cirillo, Mario;
- Cinalli, Giuseppe;
- Mirone, Giuseppe;
- Giugliano, Teresa;
- Piluso, Giulio;
- D'Amico, Alessandra;
- Capra, Valeria;
- Pavanello, Marco;
- Cama, Armando;
- Nobili, Bruno;
- Lyonnet, Stanislas;
- Perrotta, Silverio
Publication type:
Article
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1539, doi. 10.1002/ajmg.a.38219
By:
- Lavigne, Jenifer;
- Sharr, Christianne;
- Elsharkawi, Ibrahim;
- Ozonoff, Al;
- Baumer, Nicole;
- Brasington, Campbell;
- Cannon, Sheila;
- Crissman, Blythe;
- Davidson, Emily;
- Florez, Jose C.;
- Kishnani, Priya;
- Lombardo, Angela;
- Lyerly, Jordan;
- McDonough, Mary Ellen;
- Schwartz, Alison;
- Berrier, Kathryn;
- Sparks, Susan;
- Stock‐Guild, Kara;
- Toler, Tomi L.;
- Vellody, Kishore
Publication type:
Article