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

Results: 41

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 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
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
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
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
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
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