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1 . Academic Journal
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
저자
by
Travessa, André M.
;
Dias, Patrícia
;
Rosmaninho-Salgado, Joana
;
Aza-Carmona, Miriam
;
Moldovan, Oana
, et al.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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7 . Periodical
Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
저자
by
Akgun-Dogan, Ozlem
;
Díaz-González, Francisca
;
de Lima Jorge, Alexander Augusto
;
Onenli-Mungan, Neslihan
;
Menezes Andrade, Nathalia Liberatoscioli
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-7, 7p
Scopus
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7 . Academic Journal
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases.
저자
by
Díaz‐González, Francisca
;
Parrón‐Pajares, Manuel
;
Lucas‐Castro, Elsa
;
Modamio‐Høybjør, Silvia
;
Sentchordi‐Montané, Lucia
, et al.
소스
Clinical Genetics
. Jul2023, Vol. 104 Issue 1, p100-106. 7p.
Scopus
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7 . Academic Journal
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
저자
by
del Pino, Mariana
;
Huckstadt, Victoria
;
Diaz‐Gonzalez, Francisca
;
Obregon, Maria Gabriela
;
Heath, Karen E.
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2023, Vol. 191 Issue 8, p2240-2244, 5p
Scopus
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7 . Academic Journal
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
저자
by
Sentchordi-Montané, Lucía
;
Benito-Sanz, Sara
;
Aza-Carmona, Miriam
;
Díaz-González, Francisca
;
Modamio-Høybjør, Silvia
, et al.
소스
European Journal of Endocrinology
. Nov2021, Vol. 185 Issue 5, p691-705. 15p.
Full Text (OUP)
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7 . Academic Journal
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
저자
by
Díaz-González, Francisca
;
Wadhwa, Saruchi
;
Rodriguez-Zabala, Maria
;
Kumar, Somesh
;
Aza-Carmona, Miriam
, et al.
소스
Journal of Medical Genetics; Jan2022, Vol. 59 Issue 1, p28-38, 11p
Full Text (BMJ Journals)
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7 . Academic Journal
Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice.
저자
by
Sentchordi‐Montané, Lucia
;
Diaz‐Gonzalez, Francisca
;
Cátedra‐Vallés, Elena V.
;
Heath, Karen E.
.
소스
Clinical Genetics
. Feb2021, Vol. 99 Issue 2, p309-312. 4p.
Scopus
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6 . Periodical
Variable skeletal phenotypes associated with biallelic variants in PRKG2
저자
by
Pagnamenta, Alistair T
;
Diaz-Gonzalez, Francisca
;
Banos-Pinero, Benito
;
Ferla, Matteo P
;
Toosi, Mehran B
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 10 p947-950, 4p
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7 . Academic Journal
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
저자
by
Travessa, André M.
;
Díaz‐González, Francisca
;
Mirco, Teresa
;
Oliveira‐Ramos, Filipa
;
Parrón‐Pajares, Manuel
, et al.
소스
American Journal of Medical Genetics. Part A; Nov2020, Vol. 182 Issue 11, p2715-2721, 7p
Scopus
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7 . Academic Journal
First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.
저자
by
Díaz‐González, Francisca
;
Parrón‐Pajares, Manuel
;
Barcia‐Ramirez, Ana
;
Heath, Karen E.
.
소스
American Journal of Medical Genetics. Part A; Apr2020, Vol. 182 Issue 4, p628-631, 4p
Scopus
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