Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 6

Results: 41

Patterns of congenital anomalies among individuals with trisomy 13 in Texas.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1787, doi. 10.1002/ajmg.a.62175

By:

Diaz, Diego;
Benjamin, Renata H.;
Navarro Sanchez, Maria Luisa;
Mitchell, Laura E.;
Langlois, Peter H.;
Canfield, Mark A.;
Chen, Han;
Scheuerle, Angela E.;
Schaaf, Christian P.;
Scott, Daryl A.;
Northrup, Hope;
Ray, Joseph W.;
McLean, Scott D.;
Swartz, Michael D.;
Ludorf, Katherine L.;
Lupo, Philip J.;
Agopian, A. J.

Publication type:

Article

R3HDM1 haploinsufficiency is associated with mild intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1776, doi. 10.1002/ajmg.a.62173

By:

Fukushi, Daisuke;
Inaba, Mie;
Katoh, Kimiko;
Suzuki, Yasuyo;
Enokido, Yasushi;
Nomura, Noriko;
Tokita, Yoshihito;
Hayashi, Shin;
Mizuno, Seiji;
Yamada, Kenichiro;
Wakamatsu, Nobuaki

Publication type:

Article

The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion?

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1816, doi. 10.1002/ajmg.a.62172

By:

Hall, Judith G.

Publication type:

Article

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1870, doi. 10.1002/ajmg.a.62170

By:

Pillai, Nishitha R.;
Miller, Dana;
Pierpont, Elizabeth I.;
Berry, Susan A.;
Aggarwal, Anjali

Publication type:

Article

Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1712, doi. 10.1002/ajmg.a.62157

By:

Pavinato, Lisa;
Trajkova, Slavica;
Grosso, Enrico;
Giorgio, Elisa;
Bruselles, Alessandro;
Radio, Francesca Clementina;
Pippucci, Tommaso;
Dimartino, Paola;
Tartaglia, Marco;
Petlichkovski, Aleksandar;
De Rubeis, Silvia;
Buxbaum, Joseph;
Ferrero, Giovanni Battista;
Keller, Roberto;
Brusco, Alfredo

Publication type:

Article

A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1913, doi. 10.1002/ajmg.a.62184

By:

Baruch, Yoav;
Horn‐Saban, Shirley;
Plotsky, Yoram;
Bercovich, Dani;
Gershoni‐Baruch, Ruth

Publication type:

Article

Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1908, doi. 10.1002/ajmg.a.62183

By:

Del Gobbo, Giulia F.;
Yuan, Victor;
Robinson, Wendy P.

Publication type:

Article

Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1903, doi. 10.1002/ajmg.a.62182

By:

Müller, Réka;
Steffensen, Thora;
Krstić, Nevena;
Cain, Mary Ashley

Publication type:

Article

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1803, doi. 10.1002/ajmg.a.62181

By:

Mary, Laura;
Nourisson, Elsa;
Feger, Claire;
Laugel, Vincent;
Chaigne, Denys;
Keren, Boris;
Afenjar, Alexandra;
Billette, Thierry;
Trost, Detlef;
Cieuta‐Walti, Cécile;
Gerard, Bénédicte;
Piton, Amélie;
Schaefer, Elise

Publication type:

Article

First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1897, doi. 10.1002/ajmg.a.62180

By:

Gentile, Mattia;
Fanelli, Tiziana;
Lepri, Francesca Romana;
Gentile, Angela;
Orsini, Paola;
Volpe, Paolo;
Novelli, Antonio;
Ficarella, Romina

Publication type:

Article

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1888, doi. 10.1002/ajmg.a.62179

By:

Kındış, Erdem;
Simsek‐Kiper, Pelin Özlem;
Koşukcu, Can;
Taşkıran, Ekim Z.;
Göçmen, Rahşan;
Utine, Eda;
Haliloğlu, Göknur;
Boduroğlu, Koray;
Alikaşifoğlu, Mehmet

Publication type:

Article

Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1883, doi. 10.1002/ajmg.a.62178

By:

Morales‐Rosado, Joel A.;
Singh, Herchran;
Olson, Rory J.;
Larsen, Brandon T.;
Hager, Megan M.;
Klee, Eric W.;
Dhamija, Radhika

Publication type:

Article

The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1822, doi. 10.1002/ajmg.a.62177

By:

Hall, Judith G.

Publication type:

Article

Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1794, doi. 10.1002/ajmg.a.62176

By:

Battaglia, Agatino;
Lortz, Amanda;
Carey, John C.

Publication type:

Article

Specialty clinics for adults with Down syndrome: A clinic survey.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1767, doi. 10.1002/ajmg.a.62169

By:

Santoro, Stephanie L.;
Campbell, Ashlee;
Balasubramanian, Archana;
Haugen, Kelsey;
Schafer, Kimberly;
Mobley, William

Publication type:

Article

Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1757, doi. 10.1002/ajmg.a.62167

By:

Carter, Melissa T.;
Cloutier, Mireille;
Tsampalieros, Anne;
Webster, Richard

Publication type:

Article

A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1864, doi. 10.1002/ajmg.a.62166

By:

Hu, Xiaolin;
Ayala, Sofia Saenz;
Dyer, Lisa;
Guan, Qiaoning;
Pena, Loren

Publication type:

Article

Parent‐reported histories of adults with trisomy 13 syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1743, doi. 10.1002/ajmg.a.62165

By:

Lebedoff, Amy N.;
Carey, John C.

Publication type:

Article

An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks‐Innes syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1925, doi. 10.1002/ajmg.a.62164

By:

Cheng, Shirley S. W.;
Luk, Ho‐Ming;
Lo, Ivan F. M.

Publication type:

Article

A novel MPLKIP‐variant in three Finnish patients with non‐photosensitive trichothiodystrophy type 4.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1875, doi. 10.1002/ajmg.a.62168

By:

Strang‐Karlsson, Sonja;
Willebrand, Maria;
Avela, Kristiina;
Wallgren‐Pettersson, Carina

Publication type:

Article

The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1858, doi. 10.1002/ajmg.a.62163

By:

Koprulu, Mine;
Kumare, Aneeta;
Bibi, Anisa;
Malik, Sajid;
Tolun, Aslıhan

Publication type:

Article

Management of COVID‐19 infection in organic acidemias.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1854, doi. 10.1002/ajmg.a.62161

By:

Kaur, Shagun;
Campbell, Stephanie L.;
Stockton, David W.

Publication type:

Article

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1848, doi. 10.1002/ajmg.a.62160

By:

Tise, Christina G.;
Morales, Jose Andres;
Lee, Ariel S.;
Velez‐Bartolomei, Frances;
Floyd, Brendan J.;
Levy, Rebecca J.;
Cusmano‐Ozog, Kristina P.;
Feigenbaum, Annette S.;
Ruzhnikov, Maura R. Z.;
Lee, Chung U.;
Enns, Gregory M.

Publication type:

Article

Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1922, doi. 10.1002/ajmg.a.62159

By:

Finucane, Brenda;
Savatt, Juliann M.;
Shimelis, Hermela;
Girirajan, Santhosh;
Myers, Scott M.

Publication type:

Article

Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1721, doi. 10.1002/ajmg.a.62158

By:

Tüysüz, Beyhan;
Güneş, Nilay;
Geyik, Filiz;
Yeşil, Gözde;
Celkan, Tiraje;
Vural, Mehmet

Publication type:

Article

Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20‐year period.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1732, doi. 10.1002/ajmg.a.62162

By:

Tidrenczel, Zsolt;
Hajdu, Julia;
Simonyi, Aténé;
Szabó, István;
Ács, Nándor;
Demeter, János;
Beke, Artúr

Publication type:

Article

A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1841, doi. 10.1002/ajmg.a.62155

By:

Fernandez, Arnaud;
Drozd, Małgorzata;
Thümmler, Susanne;
Bardoni, Barbara;
Askenazy, Florence;
Capovilla, Maria

Publication type:

Article

The society for craniofacial genetics and developmental biology 43rd annual meeting.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1932, doi. 10.1002/ajmg.a.62150

By:

Brugmann, Samantha;
Clouthier, David E.;
Saint‐Jeannet, Jean‐Pierre;
Taneyhill, Lisa A.;
Moody, Sally A.

Publication type:

Article

Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1700, doi. 10.1002/ajmg.a.62156

By:

Cuddapah, Vishnu Anand;
Dubbs, Holly A.;
Adang, Laura;
Kugler, Steven L.;
McCormick, Elizabeth M.;
Zolkipli‐Cunningham, Zarazuela;
Ortiz‐González, Xilma R.;
McCormack, Shana;
Zackai, Elaine;
Licht, Daniel J.;
Falk, Marni J.;
Marsh, Eric D.

Publication type:

Article

A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1918, doi. 10.1002/ajmg.a.62153

By:

Palombo, Flavia;
Piccolo, Benedetta;
Saccani, Elena;
Fiorini, Claudio;
Capristo, Mariantonietta;
Caporali, Leonardo;
Pisani, Francesco;
Carelli, Valerio

Publication type:

Article

Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1836, doi. 10.1002/ajmg.a.62152

By:

Yamada, Mamiko;
Ono, Masae;
Ishii, Tomohiro;
Suzuki, Hisato;
Uehara, Tomoko;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1691, doi. 10.1002/ajmg.a.62154

By:

Dinçer, Tuba;
Gümüş, Evren;
Toraman, Bayram;
Er, İdris;
Yildiz, Gokhan;
Yüksel, Zafer;
Kalay, Ersan

Publication type:

Article

Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1678, doi. 10.1002/ajmg.a.62148

By:

Daimagüler, Hülya‐Sevcan;
Akpulat, Ugur;
Özdemir, Özkan;
Yis, Uluc;
Güngör, Serdal;
Talim, Beril;
Diniz, Gülden;
Baydan, Figen;
Thiele, Holger;
Altmüller, Janine;
Nürnberg, Peter;
Cirak, Sebahattin

Publication type:

Article

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1666, doi. 10.1002/ajmg.a.62129

By:

Mazen, Inas;
Mekkawy, Mona;
Kamel, Alaa;
Essawi, Mona;
Hassan, Heba;
Abdel‐Hamid, Mohamed;
Amr, Khalda;
Soliman, Hala;
El‐Ruby, Mona;
Torky, Ahmed;
El Gammal, Mona;
Elaidy, Aya;
Bashamboo, Anu;
McElreavey, Kenneth

Publication type:

Article

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1649, doi. 10.1002/ajmg.a.62124

By:

Sheppard, Sarah E.;
Campbell, Ian M.;
Harr, Margaret H.;
Gold, Nina;
Li, Dong;
Bjornsson, Hans T.;
Cohen, Julie S.;
Fahrner, Jill A.;
Fatemi, Ali;
Harris, Jacqueline R.;
Nowak, Catherine;
Stevens, Cathy A.;
Grand, Katheryn;
Au, Margaret;
Graham, John M.;
Sanchez‐Lara, Pedro A.;
Campo, Miguel Del;
Jones, Marilyn C.;
Abdul‐Rahman, Omar;
Alkuraya, Fowzan S.

Publication type:

Article

Cover Image, Volume 185A, Number 6, June 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. i, doi. 10.1002/ajmg.a.61678
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1648, doi. 10.1002/ajmg.a.61677
Publication type:: Article

Conference Attendees Give Thumbs up to Virtual Meetings.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1646, doi. 10.1002/ajmg.a.61676
Publication type:: Article

New Framework Developed for Polygenic Risk Score Reporting.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1645, doi. 10.1002/ajmg.a.61675
Publication type:: Article

Publication schedule for 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1644, doi. 10.1002/ajmg.a.61674
Publication type:: Article

Table of Contents, Volume 185A, Number 6, June 2021.

Published in:: American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1639, doi. 10.1002/ajmg.a.61673
Publication type:: Article