Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 11

Results: 70

Elucidating discrepant results in a prenatal diagnosis of 48,XXY,+18 (Edwards and Klinefelter syndromes).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2855, doi. 10.1002/ajmg.a.37250

By:

Peterson, Jess F.;
Mikulec, Kendra;
Grignon, John W.;
Behmaram, Behnaz;
Cruz, Meredith O.;
van Tuinen, Peter

Publication type:

Article

Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2858, doi. 10.1002/ajmg.a.37251

By:

Aggarwal, Shagun;
Jain, S. Jamal Mohamed Nurul;
Bhowmik, Aneek D.;
Tandon, Ashwani;
Dalal, Ashwin

Publication type:

Article

Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2777, doi. 10.1002/ajmg.a.37252

By:

Horesh, Nir;
Pery, Ron;
Amiel, Imri;
Shwaartz, Chaya;
Speter, Chen;
Guranda, Larisa;
Gutman, Mordechai;
Hoffman, Aviad

Publication type:

Article

Pseudoachondroplasia and painful sequelae.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2618, doi. 10.1002/ajmg.a.37253

By:

Gamble, Candace;
Nguyen, Joanne;
Hashmi, S. Shahrukh;
Hecht, Jacqueline T.

Publication type:

Article

The neurobehavioral and molecular phenotype of Angelman Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2623, doi. 10.1002/ajmg.a.37254

By:

Wink, Logan K.;
Fitzpatrick, Sarah;
Shaffer, Rebecca;
Melnyk, Sophia;
Begtrup, Amber H.;
Fox, Emma;
Schaefer, Tori L.;
Mathieu‐Frasier, Lauren;
Ray, Balmiki;
Lahiri, Debomoy;
Horn, Paul A.;
Erickson, Craig A.

Publication type:

Article

Marfan syndrome patient experiences as ascertained through postings on social media sites.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2629, doi. 10.1002/ajmg.a.37255

By:

Kelleher, Erin;
Giampietro, Philip F.;
Moreno, Megan A.

Publication type:

Article

Experiences with obtaining informed consent for genomic sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2635, doi. 10.1002/ajmg.a.37256

By:

Bernhardt, Barbara A.;
Roche, Myra I.;
Perry, Denise L.;
Scollon, Sarah R.;
Tomlinson, Ashley N.;
Skinner, Debra

Publication type:

Article

Sonic Hedgehog, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2594, doi. 10.1002/ajmg.a.37257

By:

Lubinsky, Mark

Publication type:

Article

Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2780, doi. 10.1002/ajmg.a.37258

By:

Diep, Vinson;
Seaver, Laurie H.

Publication type:

Article

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2657, doi. 10.1002/ajmg.a.37259

By:

Addissie, Yonit A.;
Kotecha, Udhaya;
Hart, Rachel A.;
Martinez, Ariel F.;
Kruszka, Paul;
Muenke, Maximilian

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 167A, Number 11, November 2015.

Published in:: 2015
Publication type:: Other

Table of Contents, Volume 167A, Number 11, November 2015.

Published in:: 2015
Publication type:: Other

Aortic dimensions in Turner syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2527, doi. 10.1002/ajmg.a.37208

By:

Quezada, Emilio;
Lapidus, Jodi;
Shaughnessy, Robin;
Chen, Zunqiu;
Silberbach, Michael

Publication type:

Article

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2691, doi. 10.1002/ajmg.a.37209

By:

Jones, Kelly L.;
Schwarze, Ulrike;
Adam, Margaret P.;
Byers, Peter H.;
Mefford, Heather C.

Publication type:

Article

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2867, doi. 10.1002/ajmg.a.37270

By:

Richer, Julie;
Daoud, Hussein;
Geier, Pavel;
Jarinova, Olga;
Carson, Nancy;
Feberova, Jana;
Ben Fadel, Nadya;
Unrau, Jennifer;
Bareke, Eric;
Khatchadourian, Karine;
Bulman, Dennis E.;
Majewski, Jacek;
Boycott, Kym M.;
Dyment, David A.

Publication type:

Article

Progressive hip joint subluxation in Saul-Wilson syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2834, doi. 10.1002/ajmg.a.37278

By:

Chinen, Yasutsugu;
Kaneshi, Takuya;
Kamiya, Takeshi;
Hata, Kenichiro;
Nishimura, Gen;
Kaname, Tadashi

Publication type:

Article

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2868, doi. 10.1002/ajmg.a.37272

By:

Phadke, Shubha R.

Publication type:

Article

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2822, doi. 10.1002/ajmg.a.37275

By:

Takenouchi, Toshiki;
Kosaki, Rika;
Niizuma, Takahiro;
Hata, Kenichiro;
Kosaki, Kenjiro

Publication type:

Article

Menkes disease with discordant phenotype in female monozygotic twins.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2826, doi. 10.1002/ajmg.a.37276

By:

Burgemeister, Anna Lena;
Zirn, Birgit;
Oeffner, Frank;
Kaler, Stephen G.;
Lemm, Gunther;
Rossier, Eva;
Büttel, Hans‐Martin

Publication type:

Article

SOX2 anophthalmia syndrome and dental anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2830, doi. 10.1002/ajmg.a.37277

By:

Chacon‐Camacho, Oscar Francisco;
Fuerte‐Flores, Bertha Irene;
Ricardez‐Marcial, Edgar F.;
Zenteno, Juan Carlos

Publication type:

Article

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2817, doi. 10.1002/ajmg.a.37271

By:

Bertamino, Marta;
Severino, Mariasavina;
Schiaffino, Maria Cristina;
Garrè, Maria Luisa;
Bocciardi, Renata;
Ravazzolo, Roberto;
Rossi, Andrea;
Di Rocco, Maja

Publication type:

Article

Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2674, doi. 10.1002/ajmg.a.37279

By:

Duffy, Elizabeth A.;
Pretorius, Pamela R.;
Lerach, Stephanie;
Lohr, Jamie L.;
Hirsch, Betsy;
Souza, Cleiton M.;
Veillette, André;
Schimmenti, Lisa A.

Publication type:

Article

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2685, doi. 10.1002/ajmg.a.37155

By:

Lissewski, Christina;
Kant, Sarina G.;
Stark, Zornitza;
Schanze, Ina;
Zenker, Martin

Publication type:

Article

Differentiating between copy-number-variation and gain-of-function mutation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2684, doi. 10.1002/ajmg.a.37220

By:

Gripp, Karen W.

Publication type:

Article

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2548, doi. 10.1002/ajmg.a.37221

By:

Nesbitt, Addie;
Bhoj, Elizabeth J.;
McDonald Gibson, Kristin;
Yu, Zhenming;
Denenberg, Elizabeth;
Sarmady, Mahdi;
Tischler, Tanya;
Cao, Kajia;
Dubbs, Holly;
Zackai, Elaine H.;
Santani, Avni

Publication type:

Article

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2720, doi. 10.1002/ajmg.a.37222

By:

Morandi, Anita;
Bonnefond, Amélie;
Lobbens, Stéphane;
Carotenuto, Marco;
del Giudice, Emanuele Miraglia;
Froguel, Philippe;
Maffeis, Claudio

Publication type:

Article

Familial 7q11.23 duplication with variable phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2727, doi. 10.1002/ajmg.a.37226

By:

Patil, Siddaramappa J.;
Salian, Smrithi;
Bhat, Venkaraman;
Girisha, Katta Mohan;
Shrivastava, Yash;
VS, Kiran;
Sapare, Anilkumar

Publication type:

Article

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2731, doi. 10.1002/ajmg.a.37227

By:

Grønborg, Sabine;
Kjaergaard, Susanne;
Hove, Hanne;
Larsen, Vibeke André;
Kirchhoff, Maria

Publication type:

Article

Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2737, doi. 10.1002/ajmg.a.37228

By:

Holder, J. Lloyd;
Cheung, Sau‐Wai

Publication type:

Article

Trisomy 15 mosaicism: Challenges in prenatal diagnosis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37229

By:

Silva, Marisa;
Alves, Cristina;
Pedro, Sónia;
Marques, Bárbara;
Ferreira, Cristina;
Furtado, José;
Martins, Ana Teresa;
Fernandes, Rosário;
Correia, Joaquim;
Correia, Hildeberto

Publication type:

Article

Informed consent required for federally funded studies on bloodspots.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. ix, doi. 10.1002/ajmg.a.37413
Publication type:: Article

Research sheds light on gene expression differences in 22q11.2 deletion syndrome.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. x, doi. 10.1002/ajmg.a.37414
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. xii, doi. 10.1002/ajmg.a.37415
Publication type:: Article

Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2599, doi. 10.1002/ajmg.a.37240

By:

Bedard, Tanya;
Lowry, Robert Brian;
Sibbald, Barbara;
Kiefer, Gerhard N.;
Metcalfe, Amy

Publication type:

Article

Comment: The midline.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2566, doi. 10.1002/ajmg.a.37245

By:

Opitz, John M.

Publication type:

Article

Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2610, doi. 10.1002/ajmg.a.37246

By:

Imai, Ken;
Uchiyama, Atsushi;
Okamura, Tomoka;
Ago, Mako;
Suenaga, Hideyo;
Sugita, Eri;
Ono, Hideko;
Shuri, Kyoko;
Masumoto, Kenichi;
Totsu, Satsuki;
Nakanishi, Hidehiko;
Kusuda, Satoshi

Publication type:

Article

Genochondromatosis type I: A clinicoradiological study of four family members.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2758, doi. 10.1002/ajmg.a.37247

By:

Sareen, Atul;
D'souza, Maria M.;
Reddy, Kanakeya Bachha;
Kanojia, Rajesh Kumar;
Kumar, Ajay

Publication type:

Article

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2508, doi. 10.1002/ajmg.a.37248

By:

Kariminejad, Ariana;
Nafissi, Shahriar;
Nilipoor, Yalda;
Tavasoli, Alireza;
Van Veldhoven, Paul P.;
Bonnard, Carine;
Ng, Yeng Ting;
Majoie, Charles B.;
Reversade, Bruno;
Hennekam, Raoul C.

Publication type:

Article

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2767, doi. 10.1002/ajmg.a.37249

By:

Tunovic, Sanjin;
Barañano, Kristin W.;
Barkovich, James A.;
Strober, Jonathan B.;
Jamal, Leila;
Slavotinek, Anne M.

Publication type:

Article

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2786, doi. 10.1002/ajmg.a.37260

By:

Tamburrino, Federica;
Gibertoni, Dino;
Rossi, Cesare;
Scarano, Emanuela;
Perri, Annamaria;
Montanari, Francesca;
Fantini, Maria Pia;
Pession, Andrea;
Tartaglia, Marco;
Mazzanti, Laura

Publication type:

Article

Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2647, doi. 10.1002/ajmg.a.37262

By:

Zierhut, Heather;
McCarthy Veach, Patricia;
LeRoy, Bonnie

Publication type:

Article

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2795, doi. 10.1002/ajmg.a.37263

By:

Karaca, Ender;
Yuregir, Ozge O.;
Bozdogan, Sevcan T.;
Aslan, Huseyin;
Pehlivan, Davut;
Jhangiani, Shalini N.;
Akdemir, Zeynep C.;
Gambin, Tomasz;
Bayram, Yavuz;
Atik, Mehmed M.;
Erdin, Serkan;
Muzny, Donna;
Gibbs, Richard A.;
Lupski, James R.

Publication type:

Article

Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2861, doi. 10.1002/ajmg.a.37265

By:

Arcos‐Machancoses, José Vicente;
Reina, Purificacion Marin;
Martinez, Francisco;
Busselo, Maria Jimenez;
Perez‐Aytes, Antonio

Publication type:

Article

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2800, doi. 10.1002/ajmg.a.37266

By:

Mackenroth, Luisa;
Hackmann, Karl;
Beyer, Anke;
Schallner, Jens;
Novotna, Barbara;
Klink, Barbara;
Schröck, Evelin;
Di Donato, Nataliya

Publication type:

Article

National down syndrome patient database: Insights from the development of a multi-center registry study.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2520, doi. 10.1002/ajmg.a.37267

By:

Lavigne, Jenifer;
Sharr, Christianne;
Ozonoff, Al;
Prock, Lisa Albers;
Baumer, Nicole;
Brasington, Campbell;
Cannon, Sheila;
Crissman, Blythe;
Davidson, Emily;
Florez, Jose C.;
Kishnani, Priya;
Lombardo, Angela;
Lyerly, Jordan;
McCannon, Jessica B.;
McDonough, Mary Ellen;
Schwartz, Alison;
Berrier, Kathryn L.;
Sparks, Susan;
Stock‐Guild, Kara;
Toler, Tomi L.

Publication type:

Article

A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2808, doi. 10.1002/ajmg.a.37268

By:

Imitola, Jaime;
Khurana, Divya S.;
Teplyuk, Nadiya M.;
Zucker, Mark;
Jethva, Reena;
Legido, Agustin;
Krichevsky, Ana M.;
Frangieh, Michael;
Walsh, Christopher A.;
Carvalho, Karen S.

Publication type:

Article

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2664, doi. 10.1002/ajmg.a.37269

By:

Riley, Kacie N.;
Catalano, Lisa M.;
Bernat, John A.;
Adams, Stacie D.;
Martin, Donna M.;
Lalani, Seema R.;
Patel, Ankita;
Burnside, Rachel D.;
Innis, Jeffrey W.;
Rudd, M. Katharine

Publication type:

Article

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2702, doi. 10.1002/ajmg.a.37210

By:

Weiss, Karin;
Applegate, Carolyn;
Wang, Tao;
Batista, Denise A. S.

Publication type:

Article

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2707, doi. 10.1002/ajmg.a.37211

By:

Choucair, Nancy;
Abou Ghoch, Joelle;
Fawaz, Ali;
Mégarbané, André;
Chouery, Eliane

Publication type:

Article

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2714, doi. 10.1002/ajmg.a.37212

By:

Houcinat, N.;
Llanas, B.;
Moutton, S.;
Toutain, J.;
Cailley, D.;
Arveiler, B.;
Combe, C.;
Lacombe, D.;
Rooryck, C.

Publication type:

Article