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  1. 1041
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    Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency
  2. 1042
    “…Thus, OPA1 gene screening is advisable in the workup of patients with recessive optic atrophy, particularly with Behr syndrome and cataracts.…”
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    Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
  3. 1043
    “…Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. …”
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    A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
  4. 1044
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    Food insecurity and social protection in Europe: Quasi-natural experiment of Europe's great recessions 2004–2012
  5. 1045
    “…STATEMENT OF THE PROBLEM: Gingival recession has been considered as the most challenging issue in the field of periodontal plastic surgery. …”
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    Clinical Comparison of Full and Partial Double Pedicle Flaps with Connective Tissue Grafts for Treatment of Gingival Recession
  6. 1046
    “…Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. …”
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    X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
  7. 1047
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    Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa
  8. 1048
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    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
  9. 1049
    “…Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20‐nail dystrophy in the absence of other cutaneous or extracutaneous findings. …”
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    Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature
  10. 1050
    por Eum, Sun Jung, Chun, Bo Young
    Publicado 2016
    “…PURPOSE: The purpose of this study is to compare the magnitude and axis of astigmatism induced by a combined inferior oblique (IO) anterior transposition procedure with lateral rectus (LR) recession versus LR recession alone. METHODS: Forty-six patients were retrospectively analyzed. …”
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    Comparison of Astigmatism Induced by Combined Inferior Oblique Anterior Transposition Procedure and Lateral Rectus Recession Alone
  11. 1051
    “…He had a high blood pressure and had been diagnosed earlier with autosomal recessive polycystic kidney disease based on renal ultrasound findings. …”
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    Renal lymphangiomatosis, a rare differential diagnosis for autosomal recessive polycystic kidney disease in pediatric patients
  12. 1052
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    Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
  13. 1053
    “…BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia (GT) and Bernard–Soulier syndrome. …”
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    Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions
  14. 1054
    “…Our method is applicable to single patients from recessive families with at least a few dozen control individuals from the same population; it is easy to use and is highly effective for detecting causative mutations in autosomal recessive families.…”
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    HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families
  15. 1055
    “…AIM: To investigate the therapeutic potential of tesevatinib (TSV), a unique multi-kinase inhibitor currently in Phase II clinical trials for autosomal dominant polycystic kidney disease (ADPKD), in well-defined rodent models of autosomal recessive polycystic kidney disease (ARPKD). METHODS: We administered TSV in daily doses of 7.5 and 15 mg/kg per day by I.P. to the well characterized bpk model of polycystic kidney disease starting at postnatal day (PN) 4 through PN21 to assess efficacy and toxicity in neonatal mice during postnatal development and still undergoing renal maturation. …”
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    Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease
  16. 1056
    “…OBJECTIVE: To identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL). METHODS: Targeted X-chromosome exome sequencing was conducted, and cosegregation analysis was performed in the members of the affected family. …”
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    GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
  17. 1057
    “…Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. …”
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    EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
  18. 1058
    “…Thus, in order to promote recess physical activity, researchers, teachers and educational policy makers should take into account gender socialization and promote inclusive non-curricular physical activity in schools.…”
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    “Football is a boys’ game”: children’s perceptions about barriers for physical activity during recess time
  19. 1059
    “…Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. …”
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    Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
  20. 1060
    “…In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherited mutation in exon 80 of COL7A1, which impairs type VII collagen expression, causing the severe blistering skin disease recessive dystrophic epidermolysis bullosa. Upon CRISPR/Cas9 treatment of patient-derived keratinocytes, using either the wild-type Cas9 or D10A nickase, corrected single-cell clones expressed and secreted similar levels of type VII collagen as control keratinocytes. …”
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    COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa
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