Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 1

Results: 46

Cover Image, Volume 176A, Number 1, January 2018.
Published in:
2018
By:
- Ikenoue, Satoru;
- Miyakoshi, Kei;
- Ishii, Tomohiro;
- Sato, Yu;
- Otani, Toshimitsu;
- Akiba, Yohei;
- Kasuga, Yoshifumi;
- Ochiai, Daigo;
- Matsumoto, Tadashi;
- Ichihashi, Yosuke;
- Matsuzaki, Yohei;
- Tachikawa, Kanako;
- Michigami, Toshimi;
- Nishimura, Gen;
- Ikeda, Kazushige;
- Hasegawa, Tomonobu;
- Tanaka, Mamoru
Publication type:
Other
Exome sequencing helps diagnose infants in the ICU.
Published in:
2018
Publication type:
Other
Testing scenario for intellectual disability, developmental delay, and autism challenged.
Published in:
2018
Publication type:
Other
Discordant fetal phenotype of hypophosphatasia in two siblings.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 171, doi. 10.1002/ajmg.a.38531
By:
- Ikenoue, Satoru;
- Miyakoshi, Kei;
- Ishii, Tomohiro;
- Sato, Yu;
- Otani, Toshimitsu;
- Akiba, Yohei;
- Kasuga, Yoshifumi;
- Ochiai, Daigo;
- Matsumoto, Tadashi;
- Ichihashi, Yosuke;
- Matsuzaki, Yohei;
- Tachikawa, Kanako;
- Michigami, Toshimi;
- Nishimura, Gen;
- Ikeda, Kazushige;
- Hasegawa, Tomonobu;
- Tanaka, Mamoru
Publication type:
Article
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 175, doi. 10.1002/ajmg.a.38533
By:
- Lande, Asgeir;
- Kroken, Mette;
- Rabben, Kai;
- Retterstøl, Lars
Publication type:
Article
FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 139, doi. 10.1002/ajmg.a.38535
By:
- Yamoto, Kaori;
- Okamoto, Shingo;
- Fujisawa, Yasuko;
- Fukami, Maki;
- Saitsu, Hirotomo;
- Ogata, Tsutomu
Publication type:
Article
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 181, doi. 10.1002/ajmg.a.38536
By:
- Gordon, Christopher T.;
- Chopra, Maya;
- Oufadem, Myriam;
- Alibeu, Olivier;
- Bras, Marc;
- Boddaert, Nathalie;
- Bole‐Feysot, Christine;
- Nitschké, Patrick;
- Abadie, Véronique;
- Lyonnet, Stanislas;
- Amiel, Jeanne
Publication type:
Article
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 34, doi. 10.1002/ajmg.a.38537
By:
- Kar, Anjana;
- Phadke, Shubha R.;
- Das Bhowmik, Aneek;
- Dalal, Ashwin
Publication type:
Article
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 187, doi. 10.1002/ajmg.a.38538
By:
- Yilmaz, Rüstem;
- Szakszon, Katalin;
- Altmann, Anna;
- Altunoglu, Umut;
- Senturk, Leyli;
- McGuire, Marianne;
- Calabrese, Olga;
- Madan‐Khetarpal, Suneeta;
- Basel‐Vanagaite, Lina;
- Borck, Guntram
Publication type:
Article
Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 194, doi. 10.1002/ajmg.a.38539
By:
- Harcourt, Brooke E.;
- Bullen, Denise V. R.;
- Kao, Kung‐Ting;
- Tassoni, Daniella;
- Alexander, Erin J.;
- Burgess, Trent;
- White, Susan M.;
- Sabin, Matthew A.
Publication type:
Article
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 253, doi. 10.1002/ajmg.a.38550
By:
- Giampietro, Philip F.;
- Pourquie, Olivier;
- Raggio, Cathy;
- Ikegawa, Shiro;
- Turnpenny, Peter D.;
- Gray, Ryan;
- Dunwoodie, Sally L.;
- Gurnett, Christina A.;
- Alman, Benjamin;
- Cheung, Kenneth;
- Kusumi, Kenro;
- Hadley‐Miller, Nancy;
- Wise, Carol A.
Publication type:
Article
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 92, doi. 10.1002/ajmg.a.38506
By:
- Guen, Vincent J.;
- Edvardson, Simon;
- Fraenkel, Nitay D.;
- Fattal‐Valevski, Aviva;
- Jalas, Chaim;
- Anteby, Irene;
- Shaag, Avraham;
- Dor, Talia;
- Gillis, David;
- Kerem, Eitan;
- Lees, Jacqueline A.;
- Colas, Pierre;
- Elpeleg, Orly
Publication type:
Article
Novel pregnancy-triggered episodes of CAPOS syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 235, doi. 10.1002/ajmg.a.38502
By:
- Chang, Irene J.;
- Adam, Margaret P.;
- Jayadev, Suman;
- Bird, Thomas D.;
- Natarajan, Niranjana;
- Glass, Ian A.
Publication type:
Article
Further delineation of the GDF6 related multiple synostoses syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 225, doi. 10.1002/ajmg.a.38503
By:
- Terhal, Paulien A.;
- Verbeek, Nienke E.;
- Knoers, Nine;
- Nievelstein, Rutger J. A. J.;
- van den Ouweland, Ans;
- Sakkers, Ralph J.;
- Speleman, Lucienne;
- van Haaften, Gijs
Publication type:
Article
Rare FMR1 gene mutations causing fragile X syndrome: A review.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 11, doi. 10.1002/ajmg.a.38504
By:
- Sitzmann, Adam F.;
- Hagelstrom, Robert T.;
- Tassone, Flora;
- Hagerman, Randi J.;
- Butler, Merlin G.
Publication type:
Article
Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 246, doi. 10.1002/ajmg.a.38505
By:
- Narine, Kalindi Y.;
- Oh, Christopher C.;
- Fuchs, Herbert E.;
- Van Mater, David
Publication type:
Article
A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 214, doi. 10.1002/ajmg.a.38501
By:
- Zhou, Qi;
- Yao, Fengxia;
- Wang, Feng;
- Li, Hui;
- Chen, Rui;
- Sui, Ruifang
Publication type:
Article
Familial choreoathetosis due to novel heterozygous mutation in PDE10A.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 146, doi. 10.1002/ajmg.a.38507
By:
- Narayanan, Dhanya L.;
- Deshpande, Dipti;
- Das Bhowmik, Aneek;
- Varma, Dandu R.;
- Dalal, Ashwin
Publication type:
Article
Family management of childhood chronic conditions: Does it make a difference if the child has an intellectual disability?
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 82, doi. 10.1002/ajmg.a.38508
By:
- Van Riper, Marcia;
- Knafl, George J.;
- Roscigno, Cecelia;
- Knafl, Kathleen A.
Publication type:
Article
Auditory evoked potentials in children and adolescents with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 68, doi. 10.1002/ajmg.a.38520
By:
- Gregory, Letícia;
- Rosa, Rafael F. M.;
- Zen, Paulo R. G.;
- Sleifer, Pricila
Publication type:
Article
Expanding the neurodevelopmental phenotype of PURA syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 56, doi. 10.1002/ajmg.a.38521
By:
- Lee, Bo Hoon;
- Reijnders, Margot R. F.;
- Abubakare, Oluwatobi;
- Tuttle, Emily;
- Lape, Brynn;
- Minks, Kelly Q.;
- Stodgell, Christopher;
- Bennetto, Loisa;
- Kwon, Jennifer;
- Fong, Chin‐To;
- Gripp, Karen W.;
- Marsh, Eric D.;
- Smith, Wendy E.;
- Huq, Ahm M.;
- Coury, Stephanie A.;
- Tan, Wen‐Hann;
- Solis, Orestes;
- Mehta, Rupal I.;
- Leventer, Richard J.;
- Baralle, Diana
Publication type:
Article
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 156, doi. 10.1002/ajmg.a.38522
By:
- Hebbar, Malavika;
- Kanthi, Anil;
- Shrikiran, Aroor;
- Patil, Snehal;
- Muranjan, Mamta;
- Francis, Febi;
- Bhat B, Vishnu;
- Girisha, Katta M.;
- Shukla, Anju
Publication type:
Article
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 48, doi. 10.1002/ajmg.a.38523
By:
- Steiner, Jack E.;
- McCoy, Garrett N.;
- Hess, Christopher P.;
- Dobyns, William B.;
- Metry, Denise W.;
- Drolet, Beth A.;
- Maheshwari, Mohit;
- Siegel, Dawn H.
Publication type:
Article
A model to characterize psychopathological features in adults with Prader-Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 41, doi. 10.1002/ajmg.a.38525
By:
- Thuilleaux, Denise;
- Laurier, Virginie;
- Copet, Pierre;
- Tricot, Julie;
- Demeer, Geneviève;
- Mourre, Fabien;
- Tauber, Maithé;
- Jauregi, Joseba
Publication type:
Article
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 161, doi. 10.1002/ajmg.a.38526
By:
- González‐del Angel, Ariadna;
- Caro‐Contreras, Alan;
- Alcántara‐Ortigoza, Miguel Angel;
- Ramos, Sandra;
- Cruz‐Alcívar, Roberto;
- Moyers‐Pérez, Paola
Publication type:
Article
Wieacker-Wolff syndrome with associated cleft palate in a female case.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 167, doi. 10.1002/ajmg.a.38527
By:
- Godfrey, Natalie D.;
- Dowlatshahi, Samandar;
- Martin, Madelena M.;
- Rothkopf, Douglas M.
Publication type:
Article
Response to: 'In reply to: 'Mast Cell Disorders in Ehlers-Danlos Syndrome' (Jaime Vengoechea, Department of Human Genetics, Emory University)'.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 251, doi. 10.1002/ajmg.a.38528
By:
- Seneviratne, Suranjith L.;
- Maitland, Anne;
- Afrin, Lawrence B.
Publication type:
Article
Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 134, doi. 10.1002/ajmg.a.38529
By:
- Pasutto, Francesca;
- Flinter, Frances;
- Rauch, Anita;
- Reis, André
Publication type:
Article
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 99, doi. 10.1002/ajmg.a.38477
By:
- Guan, Jing;
- Wang, Hongyang;
- Lan, Lan;
- Wang, Li;
- Yang, Ju;
- Xie, Linyi;
- Yin, Zifang;
- Xiong, Wenping;
- Zhao, Lidong;
- Wang, Dayong;
- Wang, Qiuju
Publication type:
Article
Table of Contents, Volume 176A, Number 1, January 2018.
Published in:
2018
Publication type:
Other
Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 144, doi. 10.1002/ajmg.a.38541
By:
- McKelvey, Jr., Kent D.;
- Trana, Carol J.;
- Kelsay, Jill;
- Sawyer, Jeffrey;
- Clothier, Jeffrey
Publication type:
Article
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 107, doi. 10.1002/ajmg.a.38542
By:
- Xiao, Bing;
- Qiu, Wenjuan;
- Ji, Xing;
- Liu, Xiaoqing;
- Huang, Zhuo;
- Liu, Huili;
- Fan, Yanjie;
- Xu, Yan;
- Liu, Yu;
- Yie, Hui;
- Wei, Wei;
- Yan, Hui;
- Gong, Zhuwen;
- Shen, Lixiao;
- Sun, Yu
Publication type:
Article
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 219, doi. 10.1002/ajmg.a.38544
By:
- Das Bhowmik, Aneek;
- Salem Ramakumaran, Vijayalakshmi;
- Dalal, Ashwin
Publication type:
Article
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 230, doi. 10.1002/ajmg.a.38549
By:
- Myers, Kenneth A.;
- Bennett, Mark F.;
- Chow, Chung W.;
- Carden, Susan M.;
- Mandelstam, Simone A.;
- Bahlo, Melanie;
- Scheffer, Ingrid E.
Publication type:
Article
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 201, doi. 10.1002/ajmg.a.38479
By:
- Soblet, Julie;
- Dimov, Ivan;
- Graf von Kalckreuth, Clemens;
- Cano‐Chervel, Julie;
- Baijot, Simon;
- Pelc, Karin;
- Sottiaux, Martine;
- Vilain, Catheline;
- Smits, Guillaume;
- Deconinck, Nicolas
Publication type:
Article
Publication schedule for 2017.
Published in:
2018
Publication type:
Other
In this issue.
Published in:
2018
Publication type:
Other
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 209, doi. 10.1002/ajmg.a.38499
By:
- Osio, Deborah;
- Rankin, Julia;
- Koillinen, Hannele;
- Reynolds, Adele;
- Van Esch, Hilde
Publication type:
Article
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 116, doi. 10.1002/ajmg.a.38512
By:
- Capone, George T.;
- Chicoine, Brian;
- Bulova, Peter;
- Stephens, Mary;
- Hart, Sarah;
- Crissman, Blythe;
- Videlefsky, Andrea;
- Myers, Katherine;
- Roizen, Nancy;
- Esbensen, Anna;
- Peterson, Moya;
- Santoro, Stephanie;
- Woodward, Jason;
- Martin, Barry;
- Smith, David;
- for the Down Syndrome Medical Interest Group DSMIG‐USA Adult Health Care Workgroup
Publication type:
Article
Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980-2012.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 19, doi. 10.1002/ajmg.a.38513
By:
- Bedard, Tanya;
- Lowry, R. Brian;
- Sibbald, Barbara;
- Crawford, Susan;
- Kiefer, Gerhard N.
Publication type:
Article
Short rib syndrome Beemer-Langer type, a short history.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 248, doi. 10.1002/ajmg.a.38514
By:
- Beemer, Frits A.
Publication type:
Article
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
By:
- Schwartz, Mathias;
- Sternberg, Damien;
- Whalen, Sandra;
- Afenjar, Alexandra;
- Isapof, Arnaud;
- Chabrol, Brigitte;
- Portnoï, Marie‐France;
- Heide, Solveig;
- Keren, Boris;
- Chantot‐Bastaraud, Sandra;
- Siffroi, Jean‐Pierre
Publication type:
Article
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 75, doi. 10.1002/ajmg.a.38516
By:
- Wenger, Tara;
- Li, Dong;
- Harr, Margaret H.;
- Tan, Wen‐Hann;
- Pellegrino, Renata;
- Stark, Zornitza;
- Hakonarson, Hakon;
- Bhoj, Elizabeth J.
Publication type:
Article
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 241, doi. 10.1002/ajmg.a.38517
By:
- Iwata‐Otsubo, Aiko;
- Ritter, Alyssa L.;
- Weckselbatt, Brooke;
- Ryan, Nicole R.;
- Burgess, David;
- Conlin, Laura K.;
- Izumi, Kosuke
Publication type:
Article
In reply to 'Mast Cell Disorders in Ehlers-Danlos Syndrome'.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 250, doi. 10.1002/ajmg.a.38518
By:
- Vengoechea, Jaime
Publication type:
Article
Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 29, doi. 10.1002/ajmg.a.38519
By:
- Evans, David W.;
- Uljarević, Mirko
Publication type:
Article