Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 4

Results: 37

Cover Image, Volume 176A, Number 4, April 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1, doi. 10.1002/ajmg.a.38671
By:
- Zarate, Yuri A.;
- Smith‐Hicks, Constance L.;
- Greene, Carol;
- Abbott, Mary‐Alice;
- Siu, Victoria M.;
- Calhoun, Amy R. U. L.;
- Pandya, Arti;
- Li, Chumei;
- Sellars, Elizabeth A.;
- Kaylor, Julie;
- Bosanko, Katherine;
- Kalsner, Louisa;
- Basinger, Alice;
- Slavotinek, Anne M.;
- Perry, Hazel;
- Saenz, Margarita;
- Szybowska, Marta;
- Wilson, Louise C.;
- Kumar, Ajith;
- Brain, Caroline
Publication type:
Article
DNA Methylation Possible Adjunct to Screening for Neurodevelopmental Syndromes: DNA methylation signatures were identified for several neurodevelopmental Mendelian disorders, and hold promise as a supplement to standard procedures for screening and detection of these diseases
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 755, doi. 10.1002/ajmg.a.38670
Publication type:
Article
Patients Express Satisfaction, Understanding of Whole‐Genome Sequencing: In primary care and cardiology, patients were generally satisfied with their physicians' communication of WGS results, but expectations about its clinical benefits were not met
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 754, doi. 10.1002/ajmg.a.38669
Publication type:
Article
Associations between laterality of orofacial clefts and medical and academic outcomes.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1037, doi. 10.1002/ajmg.a.38663
By:
- Gallagher, Emily R.;
- Siebold, Babette;
- Collett, Brent R.;
- Cox, Timothy C.;
- Aziz, Verena;
- Cunningham, Michael L.
Publication type:
Article
A recurrent mutation causing Melnick‐Needles syndrome in females confers a severe, lethal phenotype in males.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 980, doi. 10.1002/ajmg.a.38651
By:
- Spencer, Careni;
- Lombaard, Hendrik;
- Wise, Amy;
- Krause, Amanda;
- Robertson, Stephen P.
Publication type:
Article
Isosorbide dinitrate in nephronophthisis treatment.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1023, doi. 10.1002/ajmg.a.38650
By:
- Strong, Alanna;
- Muneeruddin, Samina;
- Parrish, Richard;
- Lui, Daniel;
- Conley, Susan B.
Publication type:
Article
First‐year growth in children with Noonan syndrome: Associated with feeding problems?
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 951, doi. 10.1002/ajmg.a.38649
By:
- Croonen, Ellen A.;
- Draaisma, Jos M. T.;
- van der Burgt, Ineke;
- Roeleveld, Nel;
- Noordam, Cees
Publication type:
Article
Three novel <italic>GJB2</italic> (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 945, doi. 10.1002/ajmg.a.38648
By:
- DeMille, Desiree;
- Carlston, Colleen M.;
- Tam, Oliver H.;
- Palumbos, Janice C.;
- Stalker, Heather J.;
- Mao, Rong;
- Zori, Roberto T.;
- Viskochil, David H.;
- Park, Albert H.;
- Carey, John C.
Publication type:
Article
Newly described recessive <italic>MYH11</italic> disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1011, doi. 10.1002/ajmg.a.38647
By:
- Yetman, Anji T.;
- Starr, Lois J.
Publication type:
Article
Novel <italic>RSPO1</italic> mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1006, doi. 10.1002/ajmg.a.38646
By:
- Tallapaka, Karthik;
- Venugopal, Vineeth;
- Dalal, Ashwin;
- Aggarwal, Shagun
Publication type:
Article
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 936, doi. 10.1002/ajmg.a.38645
By:
- Palmer, Lisa D.;
- Butcher, Nancy J.;
- Boot, Erik;
- Hodgkinson, Kathleen A.;
- Heung, Tracy;
- Chow, Eva W. C.;
- Guna, Alina;
- Crowley, T. Blaine;
- Zackai, Elaine;
- McDonald‐McGinn, Donna M.;
- Bassett, Anne S.
Publication type:
Article
Age and ASD symptoms in Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1027, doi. 10.1002/ajmg.a.38641
By:
- Young, Olivia;
- Perati, Shriya;
- Weiss, Lauren A.;
- Rauen, Katherine A.
Publication type:
Article
Challenges associated with parenting youth with neurofibromatosis: A qualitative investigation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 959, doi. 10.1002/ajmg.a.38640
By:
- Pierre‐Louis, Catherine;
- Heinhuis, Tessa;
- Riklin, Eric;
- Vranceanu, Ana‐Maria
Publication type:
Article
A homozygous <italic>TTN</italic> gene variant associated with lethal congenital contracture syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1001, doi. 10.1002/ajmg.a.38639
By:
- Chervinsky, Elena;
- Khayat, Morad;
- Soltsman, Sofia;
- Habiballa, Hatem;
- Elpeleg, Orly;
- Shalev, Stavit
Publication type:
Article
Low serum fatty acid levels in pregnancies with fetal gastroschisis: A prospective study.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 915, doi. 10.1002/ajmg.a.38638
By:
- Centofanti, Sandra F.;
- Francisco, Rossana P. V.;
- Phillippi, Sonia T.;
- Castro, Inar A.;
- Hoshida, Mara S.;
- Curi, Rui;
- Brizot, Maria L.
Publication type:
Article
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 997, doi. 10.1002/ajmg.a.38637
By:
- Hirabayashi, Kristin E.;
- Moore, Anthony T.;
- Mendelsohn, Bryce A.;
- Taft, Ryan J.;
- Chawla, Aditi;
- Perry, Denise;
- Henry, Duncan;
- Slavotinek, Anne
Publication type:
Article
Biallelic loss‐of‐function <italic>WNT5A</italic> mutations in an infant with severe and atypical manifestations of Robinow syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1030, doi. 10.1002/ajmg.a.38636
By:
- Birgmeier, Johannes;
- Esplin, Edward D.;
- Jagadeesh, Karthik A.;
- Guturu, Harendra;
- Wenger, Aaron M.;
- Chaib, Hassan;
- Buckingham, Julia A.;
- Bejerano, Gill;
- Bernstein, Jonathan A.
Publication type:
Article
Autosomal dominant Robinow syndrome associated with a novel <italic>DVL3</italic> splice mutation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 992, doi. 10.1002/ajmg.a.38635
By:
- Danyel, Magdalena;
- Kortüm, Fanny;
- Dathe, Katarina;
- Kutsche, Kerstin;
- Horn, Denise
Publication type:
Article
ICD‐10 impact on ascertainment and accuracy of oral cleft cases as recorded by the Brazilian national live birth information system.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 907, doi. 10.1002/ajmg.a.38634
By:
- do Nascimento, Ricardo Lima;
- Castilla, Eduardo E.;
- Dutra, Maria da Graça;
- Orioli, Iêda M.
Publication type:
Article
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 896, doi. 10.1002/ajmg.a.38633
By:
- del Pino, Mariana;
- Ramos Mejía, Rosario;
- Fano, Virginia
Publication type:
Article
Natural history and genotype‐phenotype correlations in 72 individuals with <italic>SATB2</italic>‐associated syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 925, doi. 10.1002/ajmg.a.38630
By:
- Zarate, Yuri A.;
- Smith‐Hicks, Constance L.;
- Greene, Carol;
- Abbott, Mary‐Alice;
- Siu, Victoria M.;
- Calhoun, Amy R. U. L.;
- Pandya, Arti;
- Li, Chumei;
- Sellars, Elizabeth A.;
- Kaylor, Julie;
- Bosanko, Katherine;
- Kalsner, Louisa;
- Basinger, Alice;
- Slavotinek, Anne M.;
- Perry, Hazel;
- Saenz, Margarita;
- Szybowska, Marta;
- Wilson, Louise C.;
- Kumar, Ajith;
- Brain, Caroline
Publication type:
Article
The art and science of choosing efficacy endpoints for rare disease clinical trials.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 759, doi. 10.1002/ajmg.a.38629
By:
- Cox, Gerald F.
Publication type:
Article
A novel homozygous <italic>AP4B1</italic> mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 985, doi. 10.1002/ajmg.a.38628
By:
- Accogli, Andrea;
- Hamdan, Fadi F.;
- Poulin, Chantal;
- Nassif, Christina;
- Rouleau, Guy A.;
- Michaud, Jacques L.;
- Srour, Myriam
Publication type:
Article
Three siblings with Prader–Willi syndrome caused by imprinting center microdeletions and review.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 886, doi. 10.1002/ajmg.a.38627
By:
- Hartin, Samantha N.;
- Hossain, Waheeda A.;
- Weisensel, Nicolette;
- Butler, Merlin G.
Publication type:
Article
Further delineation of an entity caused by <italic>CREBBP</italic> and <italic>EP300</italic> mutations but not resembling Rubinstein–Taybi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 862, doi. 10.1002/ajmg.a.38626
By:
- Menke, Leonie A.;
- The DDD study;
- Gardeitchik, Thatjana;
- Hammond, Peter;
- Heimdal, Ketil R.;
- Houge, Gunnar;
- Hufnagel, Sophia B.;
- Ji, Jianling;
- Johansson, Stefan;
- Kant, Sarina G.;
- Kinning, Esther;
- Leon, Eyby L.;
- Newbury‐Ecob, Ruth;
- Paolacci, Stefano;
- Pfundt, Rolph;
- Ragge, Nicola K.;
- Rinne, Tuula;
- Ruivenkamp, Claudia;
- Saitta, Sulagna C.;
- Sun, Yu
Publication type:
Article
A biallelic <italic>ANTXR1</italic> variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1015, doi. 10.1002/ajmg.a.38625
By:
- Dinckan, Nuriye;
- Du, Renqian;
- Akdemir, Zeynep C.;
- Bayram, Yavuz;
- Jhangiani, Shalini N.;
- Doddapaneni, Harsha;
- Hu, Jianhong;
- Muzny, Donna M.;
- Guven, Yeliz;
- Aktoren, Oya;
- Kayserili, Hulya;
- Boerwinkle, Eric;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Lupski, James R.;
- Uyguner, Zehra O.;
- Letra, Ariadne
Publication type:
Article
Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1029, doi. 10.1002/ajmg.a.38624
By:
- Martin, Richard J.;
- Smith, Geoff;
- Hughes, James;
- Morrison, Patrick J.
Publication type:
Article
Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 973, doi. 10.1002/ajmg.a.38622
By:
- Zhu, Wenmiao;
- Li, Jianli;
- Chen, Stella;
- Zhang, Jinglan;
- Vetrini, Francesco;
- Braxton, Alicia;
- Eng, Christine M.;
- Yang, Yaping;
- Xia, Fan;
- Keller, Kory L.;
- Okinaka‐Hu, Leila;
- Lee, Chung;
- Holder, Jr, J. Lloyd;
- Bi, Weimin
Publication type:
Article
International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 877, doi. 10.1002/ajmg.a.38621
By:
- Samango‐Sprouse, Carole;
- Stapleton, Emily;
- Chea, Selena;
- Lawson, Patrick;
- Sadeghin, Teresa;
- Cappello, Chris;
- de Sonneville, Leo;
- van Rijn, Sophie
Publication type:
Article
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 969, doi. 10.1002/ajmg.a.38620
By:
- Pinz, Hailey;
- Pyle, Louise C.;
- Li, Dong;
- Izumi, Kosuke;
- Skraban, Cara;
- Tarpinian, Jennifer;
- Braddock, Stephen R.;
- Telegrafi, Aida;
- Monaghan, Kristin G.;
- Zackai, Elaine;
- Bhoj, Elizabeth J.
Publication type:
Article
Therapy development in Huntington disease: From current strategies to emerging opportunities.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 842, doi. 10.1002/ajmg.a.38494
By:
- Dickey, Audrey S.;
- La Spada, Albert R.
Publication type:
Article
From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 784, doi. 10.1002/ajmg.a.38480
By:
- Ochs, Hans D.;
- Petroni, Daniel
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 757, doi. 10.1002/ajmg.a.38432
Publication type:
Article
Publication schedule for 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 753, doi. 10.1002/ajmg.a.38431
Publication type:
Article
Table of Contents, Volume 176A, Number 4, April 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 749, doi. 10.1002/ajmg.a.38430
Publication type:
Article
Treating pediatric neuromuscular disorders: The future is now.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 804, doi. 10.1002/ajmg.a.38418
By:
- Dowling, James J.;
- D. Gonorazky, Hernan;
- Cohn, Ronald D.;
- Campbell, Craig
Publication type:
Article
Challenges of developing and conducting clinical trials in rare disorders.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 773, doi. 10.1002/ajmg.a.38413
By:
- Kempf, Lucas;
- Goldsmith, Jonathan C.;
- Temple, Robert
Publication type:
Article