Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 7

Results: 31

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1544, doi. 10.1002/ajmg.a.40367
Publication type:: Article

Molecular Signature at Birth Associated With Genetic Burden for Autism.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1543, doi. 10.1002/ajmg.a.40366
Publication type:: Article

Cover Image, Volume 176A, Number 7, July 2018.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. i, doi. 10.1002/ajmg.a.40365

By:

Chang, Irene J.;
Sun, Angela;
Bouchard, Maryse L.;
Kamps, Shawn E.;
Hale, Susan;
Done, Stephen;
Goldberg, Michael J.;
Glass, Ian A.

Publication type:

Article

Introducing in AJMG Part A: Case reports in diverse populations.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1547, doi. 10.1002/ajmg.a.40353

By:

Girisha, Katta M.;
Wonkam, Ambroise;
Muenke, Maximilian

Publication type:

Article

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1675, doi. 10.1002/ajmg.a.38839

By:

Chang, Irene J.;
Sun, Angela;
Bouchard, Maryse L.;
Kamps, Shawn E.;
Hale, Susan;
Done, Stephen;
Goldberg, Michael J.;
Glass, Ian A.

Publication type:

Article

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1688, doi. 10.1002/ajmg.a.38838

By:

Kernohan, Kristin D.;
Hartley, Taila;
Naumenko, Sergey;
Armour, Christine M.;
Graham, Gail E.;
Nikkel, Sarah M.;
Lines, Matthew;
Geraghty, Michael T.;
Richer, Julie;
Mears, Wendy;
Boycott, Kym M.;
Dyment, David A.

Publication type:

Article

MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1670, doi. 10.1002/ajmg.a.38837

By:

Gos, Monika;
Smigiel, Robert;
Kaczan, Teresa;
Landowska, Aleksandra;
Abramowicz, Anna;
Sasiadek, Malgorzata;
Bal, Jerzy

Publication type:

Article

Ocular albinism with infertility and late‐onset sensorineural hearing loss.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1587, doi. 10.1002/ajmg.a.38836

By:

Fabian‐Jessing, Bjørn K.;
Vestergaard, Else Marie;
Plomp, Astrid S.;
Bergen, Arthur A.;
Dreschler, Wouter A.;
Duno, Morten;
Winiarska, Beata S.;
Neumann, Linda;
Gaihede, Michael;
Vorum, Henrik;
Petersen, Michael B.

Publication type:

Article

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1667, doi. 10.1002/ajmg.a.38835

By:

Petersen, Andrea Klunder;
Streff, Haley;
Tokita, Mari;
Bostwick, Bret L.

Publication type:

Article

Systemic lupus erythematosus in a patient with Noonan syndrome‐like disorder with loose anagen hair 1: More than a chance association.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1662, doi. 10.1002/ajmg.a.38834

By:

Uehara, Tomoko;
Hosogaya, Naoki;
Matsuo, Nobutake;
Kosaki, Kenjiro

Publication type:

Article

Timothy syndrome‐like condition with syndactyly but without prolongation of the QT interval.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1657, doi. 10.1002/ajmg.a.38833

By:

Kosaki, Rika;
Ono, Hiroshi;
Terashima, Hiroshi;
Kosaki, Kenjiro

Publication type:

Article

Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1648, doi. 10.1002/ajmg.a.38832

By:

Amudhavalli, Shivarajan M.;
Hanson, Randi;
Angle, Brad;
Bontempo, Kelly;
Gripp, Karen W.

Publication type:

Article

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1641, doi. 10.1002/ajmg.a.38831

By:

Sadhwani, Anjali;
Sanjana, Neville E.;
Willen, Jennifer M.;
Calculator, Stephen N.;
Black, Emily D.;
Bean, Lora J. H.;
Li, Hong;
Tan, Wen‐Hann

Publication type:

Article

Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1578, doi. 10.1002/ajmg.a.38830

By:

Balasubramanian, Meena;
Fratzl‐Zelman, Nadja;
O'Sullivan, Rory;
Bull, Mary;
FA Peel, Nicola;
Pollitt, Rebecca C.;
Jones, Rebecca;
Milne, Elizabeth;
Smith, Kath;
Roschger, Paul;
Klaushofer, Klaus;
Bishop, Nicholas J.

Publication type:

Article

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1569, doi. 10.1002/ajmg.a.38829

By:

Boban, Sharolin;
Leonard, Helen;
Wong, Kingsley;
Wilson, Andrew;
Downs, Jenny

Publication type:

Article

Autosomal‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame DSP nonsense mutation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1622, doi. 10.1002/ajmg.a.38719

By:

Singh, Sajya M.;
Casey, Susan A.;
Berg, Allison A.;
Abdelhadi, Raed H.;
Katsiyiannis, William T.;
Bennett, Mosi K.;
Mackey‐Bojack, Shannon;
Duncanson, Emily R.;
Sengupta, Jay D.

Publication type:

Article

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents—the first cases of gonadal mosaicism in CFC?

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1637, doi. 10.1002/ajmg.a.38725

By:

Geoghegan, Sarah;
King, Graham;
Henchliffe, Jennifer;
Ramsden, Simon C.;
Barry, Raymond J.;
Green, Andrew J.;
O'Connell, Susan M.

Publication type:

Article

KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1602, doi. 10.1002/ajmg.a.38723

By:

Alsahli, Saud;
Arold, Stefan T.;
Alfares, Ahmed;
Alhaddad, Bader;
Al Balwi, Mohammed;
Kamsteeg, Erik‐Jan;
Al‐Twaijri, Waleed;
Alfadhel, Majid

Publication type:

Article

A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1632, doi. 10.1002/ajmg.a.38722

By:

Kim, Shinn Young;
Ko, Hyun‐Sun;
Kim, Namshin;
Yim, Seon‐Hee;
Jung, Seung‐Hyun;
Kim, Jiwoong;
Lee, Myung‐Duk;
Chung, Yeun‐Jun

Publication type:

Article

Atypical presentations associated with non‐polyalanine repeat PHOX2B mutations.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1627, doi. 10.1002/ajmg.a.38720

By:

Katwa, Umakanth;
D'Gama, Alissa M.;
Qualls, Anita E.;
Donovan, Lucas M.;
Heffernan, Jody;
Shi, Jiahai;
Agrawal, Pankaj B.

Publication type:

Article

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1559, doi. 10.1002/ajmg.a.38828

By:

Rehder, Helga;
Laccone, Franco;
Kircher, Susanne G.;
Schild, Ralf L.;
Rapp, Christiane;
Bald, Rainer;
Schulze, Bernt;
Behunova, Jana;
Neesen, Juergen;
Schoner, Katharina

Publication type:

Article

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1549, doi. 10.1002/ajmg.a.38712

By:

Balak, Chris;
Belnap, Newell;
Ramsey, Keri;
Joss, Shelagh;
Devriendt, Koen;
Naymik, Marcus;
Jepsen, Wayne;
Siniard, Ashley L.;
Szelinger, Szabolcs;
Parker, Mary E.;
Richholt, Ryan;
Izatt, Tyler;
LaFleur, Madison;
Terraf, Panieh;
Llaci, Lorida;
De Both, Matt;
Piras, Ignazio S.;
Rangasamy, Sampathkumar;
Schrauwen, Isabelle;
Craig, David W.

Publication type:

Article

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1594, doi. 10.1002/ajmg.a.38707

By:

Owen, David;
Töpf, Ana;
Preethish‐Kumar, Veeramani;
Lorenzoni, Paulo José;
Vroling, Bas;
Scola, Rosana Herminia;
Dias‐Tosta, Elza;
Geraldo, Argemiro;
Polavarapu, Kiran;
Nashi, Saraswati;
Cox, Daniel;
Evangelista, Teresinha;
Dawson, John;
Thompson, Rachel;
Senderek, Jan;
Laurie, Steven;
Beltran, Sergi;
Gut, Marta;
Gut, Ivo;
Nalini, Atchayaram

Publication type:

Article

Tissue‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1618, doi. 10.1002/ajmg.a.38695

By:

McDonald, Jamie;
Wooderchak‐Donahue, Whitney L.;
Henderson, Katharine;
Paul, Eleri;
Morris, Ashley;
Bayrak‐Toydemir, Pinar

Publication type:

Article

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1614, doi. 10.1002/ajmg.a.38690

By:

Lenormand, Anaëlle;
Khonsari, Roman;
Corre, Pierre;
Perrin, Jean Philippe;
Boscher, Cécile;
Nizon, Mathilde;
Pichon, Olivier;
David, Albert;
Le Caignec, Cedric;
Bertin, Helios;
Isidor, Bertrand

Publication type:

Article

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1683, doi. 10.1002/ajmg.a.38689

By:

Zaghlula, Manar;
Glaze, Daniel G.;
Enns, Gregory M.;
Potocki, Lorraine;
Schwabe, Aloysia L.;
Suter, Bernhard

Publication type:

Article

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1610, doi. 10.1002/ajmg.a.38685

By:

Quélin, Chloé;
Loget, Philippe;
Boutaud, Lucile;
Elkhartoufi, Nadia;
Milon, Joelle;
Odent, Sylvie;
Fradin, Mélanie;
Demurger, Florence;
Pasquier, Laurent;
Thomas, Sophie;
Attié‐Bitach, Tania

Publication type:

Article

Acute lymphoblastic leukemia in a male with Simpson–Golabi–Behmel syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1680, doi. 10.1002/ajmg.a.38664

By:

Minatogawa, Mari;
Iwasaki, Fuminori;
Yokoi, Takayuki;
Nagai, Junichi;
Sakazume, Satoru;
Goto, Hiroaki;
Kurosawa, Kenji

Publication type:

Article

Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1546, doi. 10.1002/ajmg.a.38441
Publication type:: Article

Publication schedule for 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1541, doi. 10.1002/ajmg.a.38440
Publication type:: Article

Table of Contents, Volume 176A, Number 7, July 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1537, doi. 10.1002/ajmg.a.38439
Publication type:: Article