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Genotype-Phenotype Interaction Analyses in Hemophilia

• Ana Rebeca Jaloma-Cruz, Claudia Patricia Beltrán-Miranda, +4 authors Mayra Judith Valdés Galván
• 2012

As with monogenic diseases, hemophilia A and hemophilia B have a direct relationship between factor VIII and factor IX gene mutations, respectively, and their causative effect on protein deficiency… (More)

Variegated-like mosaicism and ring syndrome in a r(4) boy. Appraisal of 38 patients with a fairly complete ring 4.

• M. Domínguez, Patricio Barros-Núñez, Isaura Araceli González-Ramos, H. R. Azcaray Rivera
• Genetic counseling
• 2010

A 13-month-old boy with normal development and growth failure of prenatal onset but no other physical stigmata had a 46,XY,r(4)(p1 6.3q35).ish (4psubtel-, WHS1+, 4qsubtel+, pantel-) de novo… (More)

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.

• M. Domínguez, Horacio Rivera, +8 authors Luis Eduardo Figuera
• Clinical dysmorphology
• 2017

In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25.3). Patient 2 was a boy with… (More)

Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.

• Martha Montserrat Rangel-Sosa, Luis Eduardo Figuera-Villanueva, +9 authors C Córdova-Fletes
• Clinical genetics
• 2018

Splicing-related gene mutations might affect the expression of a single gene or multiple genes and cause clinically heterogeneous diseases. With the advent of next-generation sequencing, several… (More)

[The skin as a vehicle for gene therapy: hemophilia B, an application model].

• Isaura Araceli González-Ramos, Ana Rebeca Jaloma-Cruz
• Gaceta medica de Mexico
• 2015

Artificial skin offers important advantages in gene therapy tor its biosafety and simple monitoring. An easy access of keratinocytes through small biopsies and their in vitro expansion enriched with… (More)

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