Lista de obras - Slawomir Wolczynski - Dominio Público Uruguay

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

artículo científico publicado en 2003

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

artículo científico publicado en 2009

A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta.

artículo científico publicado en 2002

Acetylsalicylic acid as a potential regulator of prolidase-convertible pro-drugs in control and neoplastic cells

artículo científico publicado en 2004

Acetylsalicylic acid-dependent inhibition of collagen biosynthesis and beta1-integrin signaling in cultured fibroblasts

artículo científico publicado en 2004

Adiponectin is related to CD146, a novel marker of endothelial cell activation/injury in chronic renal failure and peritoneally dialyzed patients

artículo científico publicado en 2004

Adiponectin, leptin and thyroid hormones in patients with chronic renal failure and on renal replacement therapy: are they related?

artículo científico publicado en 2005

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.

artículo científico publicado en 2018

Altered expression of ERs, aromatase, and COX2 connected to estrogen action in type 1 endometrial cancer biology

artículo científico publicado en 2013

Altered peroxisome-proliferator activated receptors expression in human endometrial cancer

artículo científico publicado en 2012

Aluminium and beta-2-microglobulin in kidney transplant recipients.

artículo científico publicado en 2002

Ammonia concentration in human preovulatory ovarian follicles.

artículo científico publicado en 2001

Amniotic Fluid Angiogenic and Inflammatory Factor Profiling in Foetal Down Syndrome.

artículo científico publicado en 2017

Apelin, a novel adipocytokine, in relation to endothelial function and inflammation in kidney allograft recipients.

artículo científico publicado en 2008

Aromatase gene expression in immature rat Sertoli cells: age-related changes in the FSH signalling pathway.

artículo científico publicado en 2010

Aromatic extended bisamidines: synthesis, inhibition of topoisomerases, and anticancer cytotoxicity in vitro.

artículo científico publicado en 2001

Assessment of FSHR, AMH, and AMHRII variants in women with polycystic ovary syndrome.

artículo científico publicado en 2014

Association of rs6166 polymorphism with FSH receptor transcript variants and steroid production in human granulosa cell cultures

artículo científico publicado en 2013

Biosynthesis of MUC1 mucin in human endometrial adenocarcinoma is modulated by estradiol and tamoxifen ⬇️

artículo científico publicado el 1 de febrero de 2003

Bisphenol A modulates receptivity and secretory function of human decidual cells: an in vitro study

artículo científico publicado en 2015

Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome

artículo científico publicado en 2016

Can transforming growth factor-beta1 and retinoids modify the activity of estradiol and antiestrogens in MCF-7 breast cancer cells?.

artículo científico publicado en 2004

Cellular, transcriptomic and methylome effects of individual and combined exposure to BPA, BPF, BPS on mouse spermatocyte GC-2 cell line

artículo científico publicado en 2018

Chlamydia trachomatis urogenital infection in women with infertility.

artículo científico publicado en 2009

Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV

artículo científico publicado en 2002

Contribution of quinolinic acid in the development of anemia in renal insufficiency.

artículo científico publicado en 2002

Correlations between new markers of bone formation versus bone resorption in kidney transplant recipients

artículo científico publicado en 2002

Correlations of new markers of bone formation and resorption in kidney transplant recipients.

artículo científico publicado en 2003

Cystic fibrosis as a cause of infertility.

artículo científico publicado en 2004

Cytotoxic activity of epsilon-aminocaproylamino acids in breast cancer MCF-7 and fibroblast cell lines.

artículo científico publicado en 2010

Cytotoxicity and effect on collagen biosynthesis of proline analogue of melphalan as a prolidase-convertible prodrug in cultured human skin fibroblasts.

artículo científico publicado en 2001

Dietary carotenoids in normal and pathological tissues of corpus uteri.

artículo científico publicado en 2008

Differential effects of echistatin and thrombin on collagen production and prolidase activity in human dermal fibroblasts and their possible implication in beta1-integrin-mediated signaling.

artículo científico publicado en 2005

Differential effects of estradiol and raloxifene on collagen biosynthesis in cultured human skin fibroblasts

artículo científico publicado el 1 de noviembre de 2003

Differential effects of estradiol, raloxifene and tamoxifen on estrogen receptor expression in cultured human skin fibroblasts.

artículo científico publicado en 2004

Differential effects of raloxifene and tamoxifen on the expression of estrogen receptors and antigen Ki-67 in human endometrial adenocarcinoma cell line

artículo científico publicado en 2004

Distinct mRNA, protein expression patterns and distribution of oestrogen receptors alpha and beta in human primary breast cancer: correlation with proliferation marker Ki-67 and clinicopathological factors

artículo científico publicado en 2005

Does variability in carotenoid composition and concentration in tissues of the breast and reproductive tract in women depend on type of lesion?

artículo científico publicado en 2008

Doxycycline-induced inhibition of prolidase activity in human skin fibroblasts and its involvement in impaired collagen biosynthesis.

artículo científico publicado en 2001

Effect of estradiol and raloxifene on MUC1 expression and adhesive properties of Ishikawa cells.

artículo científico publicado en 2005

Effect of melatonin and all-trans retinoic acid on the proliferation and induction of the apoptotic pathway in the culture of human breast cancer cell line MCF-7.

artículo científico publicado en 2002

Effect of risperidone and olanzapine on reproductive hormones, psychopathology and sexual functioning in male patients with schizophrenia.

artículo científico publicado en 2008

Endocrine-disrupting chemicals-Mechanisms of action on male reproductive system.

artículo científico publicado en 2017

Estradiol and tamoxifen differently affects the inhibitory effects of vitamin A and their metabolites on the proliferation and expression of alpha2beta1 integrins in MCF-7 breast cancer cells.

artículo científico publicado en 2009

Estrogen receptor beta participate in the regulation of metabolizm of extracellular matrix in estrogen alpha negative breast cancer

artículo científico publicado en 2009

Evaluation of Bisphenol A influence on endocannabinoid system in pregnant women

artículo científico publicado en 2018

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.

artículo científico publicado en 2012

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

artículo científico publicado en 2015

Expression of GLUT1 gene in breast cancer cell lines MCF-7 and MDA-MB-231.

artículo científico publicado en 2003

Expression of estrogen receptors alpha and beta in term human myometrium.

artículo científico publicado en 2004

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse

artículo científico publicado en 2011

Expression of insulin-like growth factor-I receptor, estrogen receptor alpha, Bcl-2 and Bax proteins in human breast cancer

artículo científico publicado en 2005

Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1

scientific article published on 05 July 2019

First-trimester irisin and fetuin-A concentration in predicting macrosomia

artículo científico publicado en 2018

Functional Characterization of MicroRNA-27a-3p Expression in Human Polycystic Ovary Syndrome

artículo científico publicado en 2017

Functional Expression of FSH Receptor in Endometriotic Lesions.

artículo científico publicado en 2016

Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen

artículo científico publicado en 2003

Human cultured skin fibroblasts express estrogen receptor alpha and beta

scientific article published on 01 August 2002

Hyaluronic acid counteracts interleukin-1-induced inhibition of collagen biosynthesis in cultured human chondrocytes

scientific article published on 30 June 2006

Immunohistochemical study of KiSS1 and KiSS1R expression in human primary breast cancer: Association with breast cancer receptor status, proliferation markers and clinicopathological features

artículo científico publicado en 2014

Increased serum level of membrane type 1-matrix metalloproteinase (MT1-MMP/MMP-14) in patients with breast cancer

artículo científico publicado en 2010

Inhibition of the O-glycan elongation limits MUC1 incorporation to cell membrane of human endometrial carcinoma cells

artículo científico publicado en 2004

Insulin resistance is associated with decreased circulating mannan-binding lectin concentrations in women with polycystic ovary syndrome

artículo científico publicado en 2008

Insulin-like growth factor system components in relation to erythropoietin therapy and bone metabolism in dialyzed patients and kidney transplant recipients

scientific article published on 01 March 2002

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

artículo científico publicado en 2006

KiSS1/GPR54 and estrogen-related gene expression profiles in primary breast cancer

artículo científico publicado en 2012

LPAR2 and LPAR4 are the Main Receptors Responsible for LPA Actions in Ovarian Endometriotic Cysts

artículo científico publicado en 2018

Leptin and serum erythropoietin in hemodialyzed and peritoneally dialyzed uremic patients during rHuEPO therapy

artículo científico publicado en 2000

Leptin correlates with some hemostatic parameters in CAPD patients

artículo científico publicado en 2002

Luteinizing Hormone and GATA4 Action in the Adrenocortical Tumorigenesis of Gonadectomized Female Mice

artículo científico publicado en 2017

Lysophosphatidic acid and sphingosine 1-phosphate metabolic pathways and their receptors are differentially regulated during decidualization of human endometrial stromal cells

artículo científico publicado en 2014

Markers of bone metabolism in hemodialyses and hemodiafiltration

artículo científico publicado en 2007

Markers of endothelial cell activation/injury: CD146 and thrombomodulin are related to adiponectin in kidney allograft recipients.

artículo científico publicado en 2005

Maternal plasma and amniotic fluid chemokines screening in fetal Down syndrome

artículo científico publicado en 2014

Maternal plasma and amniotic fluid sphingolipids profiling in fetal Down syndrome

artículo científico publicado en 2015

Maternal plasma angiogenic and inflammatory factor profiling in foetal Down syndrome

artículo científico publicado en 2017

Maternal plasma metabolic fingerprint indicative for fetal Down syndrome

scientific article published on 05 September 2018

New case of Primrose syndrome with mild intellectual disability

scientific article published on 09 September 2011

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

artículo científico publicado en 2007

Oocyte zona pellucida and meiotic spindle birefringence as a biomarker of pregnancy rate outcome in IVF-ICSI treatment.

artículo científico publicado en 2014

Osteoprotegerin and its correlations with new markers of bone formation and bone resorption in kidney transplant recipients.

artículo científico publicado en 2003

Parathyroid gland sonography in relation to markers of bone metabolism in kidney transplant recipients

scientific article published on 01 March 2002

Parvovirus B19 infection and IGF system components in relation to erythropoiesis in dialyzed patients and kidney transplant recipients

artículo científico publicado en 2002

Phenotype variability in a daughter and father with mild osteogenesis imperfecta correlated with collagen and prolidase levels in cultured skin fibroblasts.

artículo científico publicado en 2005

Phosphorylation of prolidase increases the enzyme activity

artículo científico publicado en 2001

Potential first trimester metabolomic biomarkers of abnormal birth weight in healthy pregnancies.

artículo científico publicado en 2014

Potential role of beta 1 integrin and collagen biosynthesis in estrogen-dependent reduction of apoptosis in tamoxifen-treated breast cancer cells.

artículo científico publicado en 2001

Prenatal evaluation of a fetus with trisomy 18 and additional balanced de novo Rob(13;14).

artículo científico publicado en 2009

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation withi

artículo científico publicado en 2007

Quantitative competitive RT-PCR method in analysis of aromatase expression in breast cancer

artículo científico publicado en 2003

Revisiting the expression and function of follicle-stimulation hormone receptor in human umbilical vein endothelial cells

artículo científico publicado en 2016

Serum Concentrations of Betatrophin and Its Association with Indirect Indices of Insulin Resistance and Beta Cell Function in Women with Polycystic Ovary Syndrome.

artículo científico publicado en 2017

Serum anti-Müllerian hormone concentration in women with polycystic ovary syndrome and type 1 diabetes mellitus

artículo científico publicado en 2016

Serum crosslaps correlations with serum ICTP and urine DPD in hemodialyzed and peritoneally dialyzed patients

artículo científico publicado en 2001

Serum irisin and its regulation by hyperinsulinemia in women with polycystic ovary syndrome.

artículo científico publicado en 2016

Serum levels of luteinizing hormone, testosterone and prolactin in patients with septic shock

artículo científico publicado en 2003

Serum soluble glycoprotein 130 concentration is inversely related to insulin sensitivity in women with polycystic ovary syndrome

artículo científico publicado en 2010

Serum visfatin in relation to insulin resistance and markers of hyperandrogenism in lean and obese women with polycystic ovary syndrome

artículo científico publicado en 2007

Sex-dependent dysregulation of human neutrophil responses by bisphenol A

artículo científico publicado en 2021

Structure-activity studies of novel amidine analogues of chlorambucil: correlation of cytotoxic activity with DNA-binding affinity and topoisomerase II inhibition.

artículo científico publicado en 2003

Studies on type I collagen in skin fibroblasts cultured from twins with lethal osteogenesis imperfecta.

artículo científico publicado en 2003

Synthesis and biological activity of carbocyclic lexitropsins with a bioreductive fragment

artículo científico publicado en 2002

Synthesis of analogues of a potent antitumor saponin OSW-1.

artículo científico publicado en 2004

Synthesis, DNA binding, topoisomerase inhibition and cytotoxic properties of 2-chloroethylnitrosourea derivatives of hoechst 33258.

artículo científico publicado en 2005

Synthesis, DNA-binding activity and cytotoxicity of carbamate derivatives of Hoechst 33258 in breast cancer MCF-7 cells

artículo científico publicado en 2002

The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis

artículo científico publicado en 2012

The FTO gene modifies weight, fat mass and insulin sensitivity in women with polycystic ovary syndrome, where its role may be larger than in other phenotypes.

artículo científico publicado en 2009

The assessment of plasma levels of insulin-like growth factor (IGF-I) and binding protein (IGFBP-3) during the maintenance therapy and after remissionof acute lymphoblastic leukemia (ALL)

artículo científico publicado en 2003

The effect of doxorubicin and retinoids on proliferation, necrosis and apoptosis in MCF-7 breast cancer cells.

artículo científico publicado en 2004

The effect of prolactin and estrogen cross-talk on prolidase- dependent signaling in MCF-7 cells.

artículo científico publicado en 2013

The influence of N- and O-glycosylation inhibitors on the glycosylation profile of cellular membrane proteins and adhesive properties of carcinoma cell lines.

artículo científico publicado en 2006

The preliminary association study of ADIPOQ, RBP4, and BCMO1 variants with polycystic ovary syndrome and with biochemical characteristics in a cohort of Polish women.

artículo científico publicado en 2018

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

The significance of the expression of ERRalpha as a potential biomarker in breast cancer

artículo científico publicado en 2008

The vitamin A family can significantly decrease the expression of ERbeta of ERs positive breast cancer cells in the presence or absence of ER ligands and paclitaxel.

artículo científico publicado en 2009

Vitamin A family compounds, estradiol, and docetaxel in proliferation, apoptosis and immunocytochemical profile of human ovary endometrioid cancer cell line CRL-11731.

artículo científico publicado en 2009

Vitamin K status in relation to bone metabolism in patients with renal failure

artículo científico publicado en 2002

[Angiogenesis in the female reproductive processes]

scientific article published on 01 August 2004

[Comparative studies of K1-67 expression between the primary tumor and breast cancer metastases to regional lymph nodes]

artículo científico publicado en 2003

Lista de obras de Slawomir Wolczynski

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta.

Acetylsalicylic acid as a potential regulator of prolidase-convertible pro-drugs in control and neoplastic cells

Acetylsalicylic acid-dependent inhibition of collagen biosynthesis and beta1-integrin signaling in cultured fibroblasts

Adiponectin is related to CD146, a novel marker of endothelial cell activation/injury in chronic renal failure and peritoneally dialyzed patients

Adiponectin, leptin and thyroid hormones in patients with chronic renal failure and on renal replacement therapy: are they related?

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.

Altered expression of ERs, aromatase, and COX2 connected to estrogen action in type 1 endometrial cancer biology

Altered peroxisome-proliferator activated receptors expression in human endometrial cancer

Aluminium and beta-2-microglobulin in kidney transplant recipients.

Ammonia concentration in human preovulatory ovarian follicles.

Amniotic Fluid Angiogenic and Inflammatory Factor Profiling in Foetal Down Syndrome.

Apelin, a novel adipocytokine, in relation to endothelial function and inflammation in kidney allograft recipients.

Aromatase gene expression in immature rat Sertoli cells: age-related changes in the FSH signalling pathway.

Aromatic extended bisamidines: synthesis, inhibition of topoisomerases, and anticancer cytotoxicity in vitro.

Assessment of FSHR, AMH, and AMHRII variants in women with polycystic ovary syndrome.

Association of rs6166 polymorphism with FSH receptor transcript variants and steroid production in human granulosa cell cultures

Biosynthesis of MUC1 mucin in human endometrial adenocarcinoma is modulated by estradiol and tamoxifen ⬇️

Bisphenol A modulates receptivity and secretory function of human decidual cells: an in vitro study

Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome

Can transforming growth factor-beta1 and retinoids modify the activity of estradiol and antiestrogens in MCF-7 breast cancer cells?.

Cellular, transcriptomic and methylome effects of individual and combined exposure to BPA, BPF, BPS on mouse spermatocyte GC-2 cell line

Chlamydia trachomatis urogenital infection in women with infertility.

Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV

Contribution of quinolinic acid in the development of anemia in renal insufficiency.

Correlations between new markers of bone formation versus bone resorption in kidney transplant recipients

Correlations of new markers of bone formation and resorption in kidney transplant recipients.

Cystic fibrosis as a cause of infertility.

Cytotoxic activity of epsilon-aminocaproylamino acids in breast cancer MCF-7 and fibroblast cell lines.

Cytotoxicity and effect on collagen biosynthesis of proline analogue of melphalan as a prolidase-convertible prodrug in cultured human skin fibroblasts.

Dietary carotenoids in normal and pathological tissues of corpus uteri.

Differential effects of echistatin and thrombin on collagen production and prolidase activity in human dermal fibroblasts and their possible implication in beta1-integrin-mediated signaling.

Differential effects of estradiol and raloxifene on collagen biosynthesis in cultured human skin fibroblasts

Differential effects of estradiol, raloxifene and tamoxifen on estrogen receptor expression in cultured human skin fibroblasts.

Differential effects of raloxifene and tamoxifen on the expression of estrogen receptors and antigen Ki-67 in human endometrial adenocarcinoma cell line

Distinct mRNA, protein expression patterns and distribution of oestrogen receptors alpha and beta in human primary breast cancer: correlation with proliferation marker Ki-67 and clinicopathological factors

Does variability in carotenoid composition and concentration in tissues of the breast and reproductive tract in women depend on type of lesion?

Doxycycline-induced inhibition of prolidase activity in human skin fibroblasts and its involvement in impaired collagen biosynthesis.

Effect of estradiol and raloxifene on MUC1 expression and adhesive properties of Ishikawa cells.

Effect of melatonin and all-trans retinoic acid on the proliferation and induction of the apoptotic pathway in the culture of human breast cancer cell line MCF-7.

Effect of risperidone and olanzapine on reproductive hormones, psychopathology and sexual functioning in male patients with schizophrenia.

Endocrine-disrupting chemicals-Mechanisms of action on male reproductive system.

Estradiol and tamoxifen differently affects the inhibitory effects of vitamin A and their metabolites on the proliferation and expression of alpha2beta1 integrins in MCF-7 breast cancer cells.

Estrogen receptor beta participate in the regulation of metabolizm of extracellular matrix in estrogen alpha negative breast cancer

Evaluation of Bisphenol A influence on endocannabinoid system in pregnant women

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

Expression of GLUT1 gene in breast cancer cell lines MCF-7 and MDA-MB-231.

Expression of estrogen receptors alpha and beta in term human myometrium.

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse

Expression of insulin-like growth factor-I receptor, estrogen receptor alpha, Bcl-2 and Bax proteins in human breast cancer

Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1

First-trimester irisin and fetuin-A concentration in predicting macrosomia

Functional Characterization of MicroRNA-27a-3p Expression in Human Polycystic Ovary Syndrome

Functional Expression of FSH Receptor in Endometriotic Lesions.

Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen

Human cultured skin fibroblasts express estrogen receptor alpha and beta

Hyaluronic acid counteracts interleukin-1-induced inhibition of collagen biosynthesis in cultured human chondrocytes

Immunohistochemical study of KiSS1 and KiSS1R expression in human primary breast cancer: Association with breast cancer receptor status, proliferation markers and clinicopathological features

Increased serum level of membrane type 1-matrix metalloproteinase (MT1-MMP/MMP-14) in patients with breast cancer

Inhibition of the O-glycan elongation limits MUC1 incorporation to cell membrane of human endometrial carcinoma cells

Insulin resistance is associated with decreased circulating mannan-binding lectin concentrations in women with polycystic ovary syndrome

Insulin-like growth factor system components in relation to erythropoietin therapy and bone metabolism in dialyzed patients and kidney transplant recipients

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

KiSS1/GPR54 and estrogen-related gene expression profiles in primary breast cancer

LPAR2 and LPAR4 are the Main Receptors Responsible for LPA Actions in Ovarian Endometriotic Cysts

Leptin and serum erythropoietin in hemodialyzed and peritoneally dialyzed uremic patients during rHuEPO therapy

Leptin correlates with some hemostatic parameters in CAPD patients

Luteinizing Hormone and GATA4 Action in the Adrenocortical Tumorigenesis of Gonadectomized Female Mice

Lysophosphatidic acid and sphingosine 1-phosphate metabolic pathways and their receptors are differentially regulated during decidualization of human endometrial stromal cells

Markers of bone metabolism in hemodialyses and hemodiafiltration

Markers of endothelial cell activation/injury: CD146 and thrombomodulin are related to adiponectin in kidney allograft recipients.

Maternal plasma and amniotic fluid chemokines screening in fetal Down syndrome

Maternal plasma and amniotic fluid sphingolipids profiling in fetal Down syndrome

Maternal plasma angiogenic and inflammatory factor profiling in foetal Down syndrome

Maternal plasma metabolic fingerprint indicative for fetal Down syndrome

New case of Primrose syndrome with mild intellectual disability

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis