Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 5

Results: 18

A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 641, doi. 10.1111/cge.14043

By:

Musa, Noha;
Elmonem, Mohamed A.;
Beetz, Christian;
Hafez, Mona;
Hassan, Mona;
Rolfs, Arndt;
Selim, Laila;
Elkhateeb, Nour

Publication type:

Article

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 624, doi. 10.1111/cge.14047

By:

Carli, Diana;
Kalantari, Silvia;
Manicone, Rosaria;
Coppo, Paola;
Francia di Celle, Paola;
La Selva, Roberta;
Santoro, Federica;
Ranieri, Carlotta;
Cardaropoli, Simona;
Fagioli, Franca;
Ferrero, Giovanni Battista;
Resta, Nicoletta;
Mussa, Alessandro

Publication type:

Article

Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 643, doi. 10.1111/cge.14045

By:

Hadouiri, Nawale;
Thomas, Quentin;
Darmency, Véronique;
Dulieu, Véronique;
De Rougemont, Marie‐Gabrielle Mourot;
Bruel, Ange‐Line;
Duffourd, Yannis;
Lecoquierre, François;
Colomb, Benoit;
Perez‐Martin, Stéphanie;
Ornetti, Paul;
Blanchard, Olivier;
Sorlin, Arthur;
Philippe, Christophe;
Faivre, Laurence;
Vitobello, Antonio;
Thauvin‐Robinet, Christel

Publication type:

Article

Spectrum of neuro‐genetic disorders in the United Arab Emirates national population.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 573, doi. 10.1111/cge.14044

By:

Saleh, Sirine;
Beyyumi, Ela;
Al Kaabi, Aysha;
Hertecant, Jozef;
Barakat, Doaa;
Al Dhaheri, Noura S.;
Al‐Gazali, Lihadh;
Al Shamsi, Aisha

Publication type:

Article

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 615, doi. 10.1111/cge.14041

By:

da Rocha, Letícia Alves;
Pires, Lucas Vieira Lacerda;
Yamamoto, Guilherme Lopes;
Magliocco Ceroni, José Ricardo;
Honjo, Rachel Sayuri;
de Novaes França Bisneto, Edgard;
Oliveira, Luiz Antônio Nunes;
Rosenberg, Carla;
Krepischi, Ana Cristina Victorino;
Passos‐Bueno, Maria Rita;
Kim, Chong Ae;
Bertola, Débora Romeo

Publication type:

Article

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 628, doi. 10.1111/cge.14051

By:

Nøstvik, Miriam;
Kateta, Sarah M.;
Schönewolf‐Greulich, Bitten;
Afenjar, Alexandra;
Barth, Magalie;
Boschann, Felix;
Doummar, Diane;
Haack, Tobias B.;
Keren, Boris;
Livshits, Ludmila A.;
Mei, Davide;
Park, Joohyun;
Pisano, Tiziana;
Prouteau, Clement;
Umair, Muhammad;
Waqas, Ahmed;
Ziegler, Alban;
Guerrini, Renzo;
Møller, Rikke S.;
Tümer, Zeynep

Publication type:

Article

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 563, doi. 10.1111/cge.14040

By:

D'Amico, Alessandra;
Rosano, Carmen;
Pannone, Luca;
Pinna, Valentina;
Assunto, Antonia;
Motta, Marialetizia;
Ugga, Lorenzo;
Daniele, Paola;
Mandile, Roberta;
Mariniello, Lucio;
Siano, Maria Anna;
Santoro, Claudia;
Piluso, Giulio;
Martinelli, Simone;
Strisciuglio, Pietro;
De Luca, Alessandro;
Tartaglia, Marco;
Melis, Daniela

Publication type:

Article

Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 637, doi. 10.1111/cge.14039

By:

Vincent, Krista M.;
Eaton, Alison;
Yassaee, Vahid Reza;
Miryounesi, Mohammad;
Hashemi‐Gorji, Feyzollah;
Rudichuk, Lauren;
Goez, Helly;
Leonard, Norma;
Lazier, Joanna

Publication type:

Article

Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 551, doi. 10.1111/cge.14038

By:

Tan, Ming;
Brusgaard, Klaus;
Gerdes, Anne‐Marie;
Mortensen, Michael Bau;
Detlefsen, Sönke;
Schaffalitzky de Muckadell, Ove B.;
Joergensen, Maiken Thyregod

Publication type:

Article

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 542, doi. 10.1111/cge.14037

By:

Kaur, Parneet;
do Rosario, Michelle C;
Hebbar, Malavika;
Sharma, Suvasini;
Kausthubham, Neethukrishna;
Nair, Karthik;
A, Shrikiran;
Bhat Y, Ramesh;
Lewis, Leslie Edward S;
Nampoothiri, Sheela;
Patil, Siddaramappa J;
Suresh, Narayanaswami;
Bijarnia Mahay, Sunita;
Dua Puri, Ratna;
Pai, Shivanand;
Kaur, Anupriya;
KC, Rakshith;
Kamath, Nutan;
Bajaj, Shruti;
Kumble, Ali

Publication type:

Article

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 529, doi. 10.1111/cge.14036

By:

Di Taranto, Maria Donata;
Giacobbe, Carola;
Palma, Daniela;
Iannuzzo, Gabriella;
Gentile, Marco;
Calcaterra, Ilenia;
Guardamagna, Ornella;
Auricchio, Renata;
Di Minno, Matteo Nicola Dario;
Fortunato, Giuliana

Publication type:

Article

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 607, doi. 10.1111/cge.14033

By:

Salian, Smrithi;
Scala, Marcello;
Nguyen, Thi Tuyet Mai;
Severino, Mariasavina;
Accogli, Andrea;
Amadori, Elisabetta;
Torella, Annalaura;
Pinelli, Michele;
Hudson, Beth;
Boothe, Megan;
Hurst, Anna;
Ben‐Omran, Tawfeg;
Larsen, Martin J.;
Fagerberg, Christina R.;
Sperling, Lene;
Miceikaite, Ieva;
Herissant, Lucas;
Doco‐Fenzy, Martine;
Jennesson, Mélanie;
Nigro, Vincenzo

Publication type:

Article

A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 634, doi. 10.1111/cge.14035

By:

Arriba, María;
Oriola, Josep;
Ezquieta, Begoña

Publication type:

Article

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 522, doi. 10.1111/cge.14032

By:

Khayat, Morad;
Danial‐Farran, Nada;
Chervinsky, Elena;
Zehavi, Yoav;
Peled‐Peretz, Lilach;
Gafni‐Amsalem, Chen;
Hakrosh, Shadia;
Abu‐Leil Zouabi, Olfat;
Tamir, Liron;
Mamlouk, Efrat;
Zlotogora, Joël;
Shalev, Stavit A.

Publication type:

Article

Out‐of‐pocket and private pay in clinical genetic testing: A scoping review.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 504, doi. 10.1111/cge.14006

By:

Grant, Peter;
Langlois, Sylvie;
Lynd, Larry D.;
Austin, Jehannine C.;
Elliott, Alison M.

Publication type:

Article

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 493, doi. 10.1111/cge.14005

By:

Iyer, Neel S.;
Gimovsky, Alexis C.;
Ferreira, Carlos R.;
Critchlow, Elizabeth;
Al‐Kouatly, Huda B.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 100, n. 5, p. 491, doi. 10.1111/cge.13787
Publication type:: Article

Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 601, doi. 10.1111/cge.14030

By:

Babiker, Amir;
Al Noaim, Khalid;
Al Swaid, Abdulrahman;
Alfadhel, Majid;
Deeb, Asma;
Martín‐Rivada, Álvaro;
Barrios, Vicente;
Pérez‐Jurado, Luis A.;
Alfares, Ahmed;
Al Alwan, Ibrahim;
Argente, Jesús

Publication type:

Article