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

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

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

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

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