Am. J. Kidney Dis. 2020 Jan 20
KDOQI US Commentary on the 2017 KDIGO Clinical Practice Guideline on the Evaluation and Care of Living Kidney Donors.
Mandelbrot DA, Reese PP, Garg N, Thomas CP, Rodrigue JR, Schinstock C, Doshi M, Cooper M, Friedewald J, Naik AS, Kaul DR, Ison MG, Rocco MV, Verbesey J, Hladunewich MA, Ibrahim HN, Poggio ED
Living kidney donation is widely practiced throughout the world. During the past 2 decades, various groups have provided guidance about the evaluation ...
Read More
Source: PubMed
Childs Nerv Syst 2020 Jan 31
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L
Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal co ...
Read More
Source: PubMed
J. Med. Genet. 2020 Jan 31
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ
Deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developm ...
Read More
Source: PubMed
BMC Med. Genet.
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
Afzal S, Ramzan K, Ullah S, Wakil SM, Jamal A, Basit S, Waqar AB
X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales ...
Read More
Source: PubMed
Prenat. Diagn. 2020 Jan 31
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto C, Alkon-Meadows T, Lee J, Cacchione T, Iyune-Cojab E, Garza-Galvan M, Luna-Rojas M, Copperman AB, Sandler B
Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. H ...
Read More
Source: PubMed
Am. J. Kidney Dis. 2020 Jan 20
KDOQI US Commentary on the 2017 KDIGO Clinical Practice Guideline on the Evaluation and Care of Living Kidney Donors.
Mandelbrot DA, Reese PP, Garg N, Thomas CP, Rodrigue JR, Schinstock C, Doshi M, Cooper M, Friedewald J, Naik AS, Kaul DR, Ison MG, Rocco MV, Verbesey J, Hladunewich MA, Ibrahim HN, Poggio ED
Living kidney donation is widely practiced throughout the world. During the past 2 decades, various groups have provided guidance about the evaluation ...
Read More
Source: PubMed
Childs Nerv Syst 2020 Jan 31
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L
Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal co ...
Read More
Source: PubMed
J. Med. Genet. 2020 Jan 31
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ
Deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developm ...
Read More
Source: PubMed
BMC Med. Genet.
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
Afzal S, Ramzan K, Ullah S, Wakil SM, Jamal A, Basit S, Waqar AB
X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales ...
Read More
Source: PubMed
Prenat. Diagn. 2020 Jan 31
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto C, Alkon-Meadows T, Lee J, Cacchione T, Iyune-Cojab E, Garza-Galvan M, Luna-Rojas M, Copperman AB, Sandler B
Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. H ...
Read More
Source: PubMed
Am. J. Kidney Dis. 2020 Jan 20
KDOQI US Commentary on the 2017 KDIGO Clinical Practice Guideline on the Evaluation and Care of Living Kidney Donors.
Mandelbrot DA, Reese PP, Garg N, Thomas CP, Rodrigue JR, Schinstock C, Doshi M, Cooper M, Friedewald J, Naik AS, Kaul DR, Ison MG, Rocco MV, Verbesey J, Hladunewich MA, Ibrahim HN, Poggio ED
Living kidney donation is widely practiced throughout the world. During the past 2 decades, various groups have provided guidance about the evaluation ...
Read More
Source: PubMed
Childs Nerv Syst 2020 Jan 31
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L
Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal co ...
Read More
Source: PubMed
J. Med. Genet. 2020 Jan 31
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ
Deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developm ...
Read More
Source: PubMed
BMC Med. Genet.
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
Afzal S, Ramzan K, Ullah S, Wakil SM, Jamal A, Basit S, Waqar AB
X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales ...
Read More
Source: PubMed
Prenat. Diagn. 2020 Jan 31
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto C, Alkon-Meadows T, Lee J, Cacchione T, Iyune-Cojab E, Garza-Galvan M, Luna-Rojas M, Copperman AB, Sandler B
Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. H ...
Read More
Source: PubMed
Am. J. Kidney Dis. 2020 Jan 20
KDOQI US Commentary on the 2017 KDIGO Clinical Practice Guideline on the Evaluation and Care of Living Kidney Donors.
Mandelbrot DA, Reese PP, Garg N, Thomas CP, Rodrigue JR, Schinstock C, Doshi M, Cooper M, Friedewald J, Naik AS, Kaul DR, Ison MG, Rocco MV, Verbesey J, Hladunewich MA, Ibrahim HN, Poggio ED
Living kidney donation is widely practiced throughout the world. During the past 2 decades, various groups have provided guidance about the evaluation ...
Read More
Source: PubMed
Childs Nerv Syst 2020 Jan 31
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L
Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal co ...
Read More
Source: PubMed
J. Med. Genet. 2020 Jan 31
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ
Deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developm ...
Read More
Source: PubMed
BMC Med. Genet.
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
Afzal S, Ramzan K, Ullah S, Wakil SM, Jamal A, Basit S, Waqar AB
X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales ...
Read More
Source: PubMed
Prenat. Diagn. 2020 Jan 31
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto C, Alkon-Meadows T, Lee J, Cacchione T, Iyune-Cojab E, Garza-Galvan M, Luna-Rojas M, Copperman AB, Sandler B
Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. H ...
Read More
Source: PubMed
